ABCA3

Summary

Gene Symbol: ABCA3
Description: ATP binding cassette subfamily A member 3
Alias: ABC-C, ABC3, EST111653, LBM180, SMDP3, ATP-binding cassette sub-family A member 3, ABC transporter 3, ABC-C transporter, ATP-binding cassette transporter 3, ATP-binding cassette, sub-family A (ABC1), member 3
Species: human
Products:     ABCA3

Top Publications

  1. Hamvas A, Cole F, Nogee L. Genetic disorders of surfactant proteins. Neonatology. 2007;91:311-7 pubmed
    ..Recessive loss-of-function mutations in the surfactant protein-B and the ATP-binding cassette family member A3 (ABCA3) genes present as lethal surfactant deficiency in the newborn, whereas other recessive mutations in ABCA3 and ..
  2. Wert S, Whitsett J, Nogee L. Genetic disorders of surfactant dysfunction. Pediatr Dev Pathol. 2009;12:253-74 pubmed publisher
    Mutations in the genes encoding the surfactant proteins B and C (SP-B and SP-C) and the phospholipid transporter, ABCA3, are associated with respiratory distress and interstitial lung disease in the pediatric population...
  3. Matsumura Y, Sakai H, Sasaki M, Ban N, Inagaki N. ABCA3-mediated choline-phospholipids uptake into intracellular vesicles in A549 cells. FEBS Lett. 2007;581:3139-44 pubmed
    b>ABCA3 is proposed to function as a lung surfactant lipid transporter. Here we report ABCA3-dependent lipid uptake into intracellular vesicles in lung adenocarcinoma A549 cells...
  4. Saugstad O, Hansen T, Rønnestad A, Nakstad B, Tølløfsrud P, Reinholt F, et al. Novel mutations in the gene encoding ATP binding cassette protein member A3 (ABCA3) resulting in fatal neonatal lung disease. Acta Paediatr. 2007;96:185-90 pubmed
    To investigate whether intractable respiratory distress syndrome in three Norwegian term infants was due to mutations in the ABCA3 gene.
  5. Yamano G, Funahashi H, Kawanami O, Zhao L, Ban N, Uchida Y, et al. ABCA3 is a lamellar body membrane protein in human lung alveolar type II cells. FEBS Lett. 2001;508:221-5 pubmed
    The ABCA3 gene, of the ABCA subclass of ATP-binding cassette (ABC) transporters, is expressed exclusively in lung. We report here the cloning, molecular characterization, and distribution of human ABCA3 in the lung...
  6. Matsumura Y, Ban N, Ueda K, Inagaki N. Characterization and classification of ATP-binding cassette transporter ABCA3 mutants in fatal surfactant deficiency. J Biol Chem. 2006;281:34503-14 pubmed
    The ATP-binding cassette transporter ABCA3 is expressed predominantly at the limiting membrane of the lamellar bodies in lung alveolar type II cells...
  7. Nagata K, Yamamoto A, Ban N, Tanaka A, Matsuo M, Kioka N, et al. Human ABCA3, a product of a responsible gene for abca3 for fatal surfactant deficiency in newborns, exhibits unique ATP hydrolysis activity and generates intracellular multilamellar vesicles. Biochem Biophys Res Commun. 2004;324:262-8 pubmed
    b>ABCA3 is highly expressed at the membrane of lamellar bodies in alveolar type II cells, in which pulmonary surfactant is stored. ABCA3 gene mutations cause fatal surfactant deficiency in newborns...
  8. Engelbrecht S, Kaltenborn E, Griese M, Kern S. The surfactant lipid transporter ABCA3 is N-terminally cleaved inside LAMP3-positive vesicles. FEBS Lett. 2010;584:4306-12 pubmed publisher
    b>ABCA3 mutations cause fatal surfactant deficiency and interstitial lung disease. ABCA3 protein is a lipid transporter indispensible for surfactant biogenesis and storage in lamellar bodies (LB)...
  9. van Moorsel C, Van Oosterhout M, Barlo N, de Jong P, van der Vis J, Ruven H, et al. Surfactant protein C mutations are the basis of a significant portion of adult familial pulmonary fibrosis in a dutch cohort. Am J Respir Crit Care Med. 2010;182:1419-25 pubmed publisher
    ..with idiopathic pneumonias, whereas cocarriage of a mutation in ATP-binding cassette subfamily A member 3 (ABCA3) was postulated to have a disease-modifying effect...
  10. Chapuy B, Koch R, Radunski U, Corsham S, Cheong N, Inagaki N, et al. Intracellular ABC transporter A3 confers multidrug resistance in leukemia cells by lysosomal drug sequestration. Leukemia. 2008;22:1576-86 pubmed publisher
    ..Analyzing the intrinsic drug efflux capacity of leukemic stem cells, we found the ABC transporter A3 (ABCA3) to be expressed consistently in acute myeloid leukemia (AML) samples...

Detail Information

Publications62

  1. Hamvas A, Cole F, Nogee L. Genetic disorders of surfactant proteins. Neonatology. 2007;91:311-7 pubmed
    ..Recessive loss-of-function mutations in the surfactant protein-B and the ATP-binding cassette family member A3 (ABCA3) genes present as lethal surfactant deficiency in the newborn, whereas other recessive mutations in ABCA3 and ..
  2. Wert S, Whitsett J, Nogee L. Genetic disorders of surfactant dysfunction. Pediatr Dev Pathol. 2009;12:253-74 pubmed publisher
    Mutations in the genes encoding the surfactant proteins B and C (SP-B and SP-C) and the phospholipid transporter, ABCA3, are associated with respiratory distress and interstitial lung disease in the pediatric population...
  3. Matsumura Y, Sakai H, Sasaki M, Ban N, Inagaki N. ABCA3-mediated choline-phospholipids uptake into intracellular vesicles in A549 cells. FEBS Lett. 2007;581:3139-44 pubmed
    b>ABCA3 is proposed to function as a lung surfactant lipid transporter. Here we report ABCA3-dependent lipid uptake into intracellular vesicles in lung adenocarcinoma A549 cells...
  4. Saugstad O, Hansen T, Rønnestad A, Nakstad B, Tølløfsrud P, Reinholt F, et al. Novel mutations in the gene encoding ATP binding cassette protein member A3 (ABCA3) resulting in fatal neonatal lung disease. Acta Paediatr. 2007;96:185-90 pubmed
    To investigate whether intractable respiratory distress syndrome in three Norwegian term infants was due to mutations in the ABCA3 gene.
  5. Yamano G, Funahashi H, Kawanami O, Zhao L, Ban N, Uchida Y, et al. ABCA3 is a lamellar body membrane protein in human lung alveolar type II cells. FEBS Lett. 2001;508:221-5 pubmed
    The ABCA3 gene, of the ABCA subclass of ATP-binding cassette (ABC) transporters, is expressed exclusively in lung. We report here the cloning, molecular characterization, and distribution of human ABCA3 in the lung...
  6. Matsumura Y, Ban N, Ueda K, Inagaki N. Characterization and classification of ATP-binding cassette transporter ABCA3 mutants in fatal surfactant deficiency. J Biol Chem. 2006;281:34503-14 pubmed
    The ATP-binding cassette transporter ABCA3 is expressed predominantly at the limiting membrane of the lamellar bodies in lung alveolar type II cells...
  7. Nagata K, Yamamoto A, Ban N, Tanaka A, Matsuo M, Kioka N, et al. Human ABCA3, a product of a responsible gene for abca3 for fatal surfactant deficiency in newborns, exhibits unique ATP hydrolysis activity and generates intracellular multilamellar vesicles. Biochem Biophys Res Commun. 2004;324:262-8 pubmed
    b>ABCA3 is highly expressed at the membrane of lamellar bodies in alveolar type II cells, in which pulmonary surfactant is stored. ABCA3 gene mutations cause fatal surfactant deficiency in newborns...
  8. Engelbrecht S, Kaltenborn E, Griese M, Kern S. The surfactant lipid transporter ABCA3 is N-terminally cleaved inside LAMP3-positive vesicles. FEBS Lett. 2010;584:4306-12 pubmed publisher
    b>ABCA3 mutations cause fatal surfactant deficiency and interstitial lung disease. ABCA3 protein is a lipid transporter indispensible for surfactant biogenesis and storage in lamellar bodies (LB)...
  9. van Moorsel C, Van Oosterhout M, Barlo N, de Jong P, van der Vis J, Ruven H, et al. Surfactant protein C mutations are the basis of a significant portion of adult familial pulmonary fibrosis in a dutch cohort. Am J Respir Crit Care Med. 2010;182:1419-25 pubmed publisher
    ..with idiopathic pneumonias, whereas cocarriage of a mutation in ATP-binding cassette subfamily A member 3 (ABCA3) was postulated to have a disease-modifying effect...
  10. Chapuy B, Koch R, Radunski U, Corsham S, Cheong N, Inagaki N, et al. Intracellular ABC transporter A3 confers multidrug resistance in leukemia cells by lysosomal drug sequestration. Leukemia. 2008;22:1576-86 pubmed publisher
    ..Analyzing the intrinsic drug efflux capacity of leukemic stem cells, we found the ABC transporter A3 (ABCA3) to be expressed consistently in acute myeloid leukemia (AML) samples...
  11. Kaltenborn E, Kern S, Frixel S, Fragnet L, Conzelmann K, Zarbock R, et al. Respiratory syncytial virus potentiates ABCA3 mutation-induced loss of lung epithelial cell differentiation. Hum Mol Genet. 2012;21:2793-806 pubmed publisher
    ATP-binding cassette transporter A3 (ABCA3) is a lipid transporter active in lung alveolar epithelial type II cells (ATII) and is essential for their function as surfactant-producing cells...
  12. Doan M, Guillerman R, Dishop M, Nogee L, Langston C, Mallory G, et al. Clinical, radiological and pathological features of ABCA3 mutations in children. Thorax. 2008;63:366-73 pubmed
    Mutations in the ABCA3 gene can result in fatal surfactant deficiency in term newborn infants and chronic interstitial lung disease in older children...
  13. Garmany T, Wambach J, Heins H, Watkins Torry J, Wegner D, Bennet K, et al. Population and disease-based prevalence of the common mutations associated with surfactant deficiency. Pediatr Res. 2008;63:645-9 pubmed publisher
    ..We resequenced the ATP-binding cassette member A3 gene (ABCA3) in E292V carriers and computationally inferred ABCA3 haplotypes...
  14. Crossno P, Polosukhin V, Blackwell T, Johnson J, Markin C, Moore P, et al. Identification of early interstitial lung disease in an individual with genetic variations in ABCA3 and SFTPC. Chest. 2010;137:969-73 pubmed publisher
    ..daughters (aged 39 and 43 years) was sequenced for the I73T mutation and variations in ATP-binding cassette A3 (ABCA3). All three had the I73T SFTPC mutation...
  15. Shulenin S, Nogee L, Annilo T, Wert S, Whitsett J, Dean M. ABCA3 gene mutations in newborns with fatal surfactant deficiency. N Engl J Med. 2004;350:1296-303 pubmed
    ..The gene for ATP-binding cassette transporter A3 (ABCA3) is expressed in alveolar type II cells, and the protein is localized to lamellar bodies, suggesting that it has ..
  16. Weichert N, Kaltenborn E, Hector A, Woischnik M, Schams A, Holzinger A, et al. Some ABCA3 mutations elevate ER stress and initiate apoptosis of lung epithelial cells. Respir Res. 2011;12:4 pubmed publisher
    b>ABCA3 transporter (ATP-binding cassette transporter of the A subfamily) is localized to the limiting membrane of lamellar bodies, organelles for assembly and storage of pulmonary surfactant in alveolar epithelial type II cells (AECII)...
  17. Bruder E, Hofmeister J, Aslanidis C, Hammer J, Bubendorf L, Schmitz G, et al. Ultrastructural and molecular analysis in fatal neonatal interstitial pneumonia caused by a novel ABCA3 mutation. Mod Pathol. 2007;20:1009-18 pubmed
    ..to involve mutations in the genes encoding surfactant protein-B or ATP-binding cassette transporter family member ABCA3. The lipid transporter ABCA3 targets surfactant phospholipids to lamellar bodies that are lysosomal-derived ..
  18. Flamein F, Riffault L, Muselet Charlier C, Pernelle J, Feldmann D, Jonard L, et al. Molecular and cellular characteristics of ABCA3 mutations associated with diffuse parenchymal lung diseases in children. Hum Mol Genet. 2012;21:765-75 pubmed publisher
    b>ABCA3 (ATP-binding cassette subfamily A, member 3) is expressed in the lamellar bodies of alveolar type II cells and is crucial to pulmonary surfactant storage and homeostasis...
  19. Connors T, Van Raay T, Petry L, Klinger K, Landes G, Burn T. The cloning of a human ABC gene (ABC3) mapping to chromosome 16p13.3. Genomics. 1997;39:231-4 pubmed
    ..The gene for this novel protein, human ABC3, maps near the polycystic kidney disease type 1 (PKD1) gene on chromosome 16p13.3...
  20. Bullard J, Nogee L. Heterozygosity for ABCA3 mutations modifies the severity of lung disease associated with a surfactant protein C gene (SFTPC) mutation. Pediatr Res. 2007;62:176-9 pubmed
    ..The underlying mechanisms for this variability are unknown. Recently, mutations in ABCA3 (encoding member A3 of the adenosine triphosphate-binding cassette family of transporters) were identified as a ..
  21. Klugbauer N, Hofmann F. Primary structure of a novel ABC transporter with a chromosomal localization on the band encoding the multidrug resistance-associated protein. FEBS Lett. 1996;391:61-5 pubmed
    ..The genomic clustering of both transporters, typical also for other members of the ABC family, supports the notion that ABC-C may be involved in development of resistance to xenobiotics...
  22. Steinbach D, Gillet J, Sauerbrey A, Gruhn B, Dawczynski K, Bertholet V, et al. ABCA3 as a possible cause of drug resistance in childhood acute myeloid leukemia. Clin Cancer Res. 2006;12:4357-63 pubmed
    ..Multidrug resistance can be caused by ATP-binding cassette (ABC) transporters that function as drug efflux pumps. The majority of these proteins have not yet been examined in malignant diseases...
  23. Mulugeta S, Gray J, Notarfrancesco K, Gonzales L, Koval M, Feinstein S, et al. Identification of LBM180, a lamellar body limiting membrane protein of alveolar type II cells, as the ABC transporter protein ABCA3. J Biol Chem. 2002;277:22147-55 pubmed
    ..antibody (3C9) that recognizes a unique protein of the lamellar body membrane of 180 kDa, which we named LBM180. We report that mass spectrometry of the protein precipitated by this antibody generated a partial sequence that ..
  24. Cheong N, Madesh M, Gonzales L, Zhao M, Yu K, Ballard P, et al. Functional and trafficking defects in ATP binding cassette A3 mutants associated with respiratory distress syndrome. J Biol Chem. 2006;281:9791-800 pubmed
    ..Mutations in ABCA3, a member of the ABCA subfamily with unknown function, lead to fatal respiratory distress syndrome (RDS) in the ..
  25. Bullard J, Wert S, Whitsett J, Dean M, Nogee L. ABCA3 mutations associated with pediatric interstitial lung disease. Am J Respir Crit Care Med. 2005;172:1026-31 pubmed
    b>ABCA3 is a member of the ATP-binding cassette family of proteins that mediate the translocation of a wide variety of substrates, including lipids, across cellular membranes...
  26. Gower W, Wert S, Ginsberg J, Golan A, Whitsett J, Nogee L. Fatal familial lung disease caused by ABCA3 deficiency without identified ABCA3 mutations. J Pediatr. 2010;157:62-8 pubmed publisher
    To test the hypothesis that some functionally significant variants in the gene encoding member A3 of the ATP Binding Cassette family (ABCA3) are not detected using exon-based sequencing approaches.
  27. Beers M, Knudsen L, Tomer Y, Maronn J, Zhao M, Ochs M, et al. Aberrant lung remodeling in a mouse model of surfactant dysregulation induced by modulation of the Abca3 gene. Ann Anat. 2017;210:135-146 pubmed publisher
    The lipid transporter, ATP binding cassette class A3 (ABCA3), plays a critical role in the biogenesis of alveolar type 2 (AT2) cell lamellar bodies (LBs)...
  28. Morgan B, Ezerina D, Amoako T, Riemer J, Seedorf M, Dick T. Multiple glutathione disulfide removal pathways mediate cytosolic redox homeostasis. Nat Chem Biol. 2013;9:119-25 pubmed publisher
    ..Applying these insights, we identify Trx2 and Grx2 as efficient backup systems to glutathione reductase for cytosolic GSSG reduction...
  29. Zhao L, Zhou C, Tanaka A, Nakata M, Hirabayashi T, Amachi T, et al. Cloning, characterization and tissue distribution of the rat ATP-binding cassette (ABC) transporter ABC2/ABCA2. Biochem J. 2000;350 Pt 3:865-72 pubmed
    ..5%, 40.0% and 40.8% identity with mouse ABC1/ABCA1, human ABC3/ABCA3 and human ABCR/ABCA4 respectively...
  30. Ban N, Sasaki M, Sakai H, Ueda K, Inagaki N. Cloning of ABCA17, a novel rodent sperm-specific ABC (ATP-binding cassette) transporter that regulates intracellular lipid metabolism. Biochem J. 2005;389:577-85 pubmed
    ..3% amino acid identity; mouse ABCA17 has amino acid identities of 55.3% and 36.7% with mouse ABCA3 and sea urchin ABCA respectively...
  31. Piehler A, Wenzel J, Olstad O, Haug K, Kierulf P, Kaminski W. The human ortholog of the rodent testis-specific ABC transporter Abca17 is a ubiquitously expressed pseudogene (ABCA17P) and shares a common 5' end with ABCA3. BMC Mol Biol. 2006;7:28 pubmed
    ..Recently, a novel testis-specific ABC A transporter, Abca17, has been cloned in rodent. In this study, we report the identification and characterization of the human ortholog of rodent Abca17...
  32. Winter J, Essmann S, Kidszun A, Aslanidis C, Griese M, Poplawska K, et al. Neonatal respiratory insufficiency caused by an (homozygous) ABCA3-stop mutation: a systematic evaluation of therapeutic options. Klin Padiatr. 2014;226:53-8 pubmed publisher
    Autosomal recessive ABCA3 (ATP-binding cassette protein A3) gene mutations have been associated with neonatal respiratory distress and pediatric interstitial lung disease...
  33. Campo I, Zorzetto M, Mariani F, Kadija Z, Morbini P, Dore R, et al. A large kindred of pulmonary fibrosis associated with a novel ABCA3 gene variant. Respir Res. 2014;15:43 pubmed publisher
    ..To our knowledge, ABCA3 gene was not previously reported as causative agent of fibrosis affecting both children and adults in the same ..
  34. Naderi H, Murray J, Dagle J. Single mutations in ABCA3 increase the risk for neonatal respiratory distress syndrome in late preterm infants (gestational age 34-36 weeks). Am J Med Genet A. 2014;164A:2676-8 pubmed publisher
  35. Mendoza Cózatl D, Zhai Z, Jobe T, Akmakjian G, Song W, Limbo O, et al. Tonoplast-localized Abc2 transporter mediates phytochelatin accumulation in vacuoles and confers cadmium tolerance. J Biol Chem. 2010;285:40416-26 pubmed publisher
    ..The S. pombe abc1 abc2 abc3 abc4 hmt1 quintuple and abc2 hmt1 double mutant show no detectable phytochelatins in vacuoles...
  36. Wulf G, Modlich S, Inagaki N, Reinhardt D, Schroers R, Griesinger F, et al. ABC transporter ABCA3 is expressed in acute myeloid leukemia blast cells and participates in vesicular transport. Haematologica. 2004;89:1395-7 pubmed
    ..We determined the prevalence of the intracellular transporter ABCA3 in specimens from patients with AML, and addressed its biology with attention to intracellular compartmentalization...
  37. van der Deen M, de Vries E, Timens W, Scheper R, Timmer Bosscha H, Postma D. ATP-binding cassette (ABC) transporters in normal and pathological lung. Respir Res. 2005;6:59 pubmed
    ..fibrosis transmembrane conductance regulator (CFTR) gene can cause cystic fibrosis, and mutations in ABCA1 and ABCA3 are responsible for respectively Tangier disease and fatal surfactant deficiency...
  38. Park S, Amos L, Rao A, Quasney M, Matsumura Y, Inagaki N, et al. Identification and characterization of a novel ABCA3 mutation. Physiol Genomics. 2010;40:94-9 pubmed publisher
    Mutations in the gene coding for ATP-binding cassette protein A3 (ABCA3) are recognized as a genetic cause of lung disease of varying severity...
  39. Garmany T, Moxley M, White F, Dean M, Hull W, Whitsett J, et al. Surfactant composition and function in patients with ABCA3 mutations. Pediatr Res. 2006;59:801-5 pubmed
    Mutations in the gene encoding the ATP binding cassette transporter member A3 (ABCA3) are associated with fatal surfactant deficiency...
  40. Benlhabib H, Guo W, Pierce B, Mendelson C. The miR-200 family and its targets regulate type II cell differentiation in human fetal lung. J Biol Chem. 2015;290:22409-22 pubmed publisher
    ..Importantly, overexpression of ZEB1 or miR-200 antagonists in HFL type II cells also inhibited LPCAT1 and ABCA3, enzymes involved in surfactant phospholipid synthesis and trafficking, and blocked lamellar body biogenesis...
  41. Paolini A, Baldassarre A, Del Gaudio I, Masotti A. Structural Features of the ATP-Binding Cassette (ABC) Transporter ABCA3. Int J Mol Sci. 2015;16:19631-44 pubmed publisher
    In this review we reported and discussed the structural features of the ATP-Binding Cassette (ABC) transporter ABCA3 and how the use of bioinformatics tools could help researchers to obtain a reliable structural model of this important ..
  42. Bao Y, Liu X, Chen J, Zheng Y. [A novel compound heterozygous mutation in ABCA3 gene in a child with diffuse parenchymal lung disease]. Zhonghua Er Ke Za Zhi. 2017;55:835-839 pubmed publisher
    ..characteristics of the diffuse parenchymal lung diseases in a child caused by a novel compound heterozygous ABCA3 mutation and explore the association between the phenotype and ABCA3 mutation...
  43. Lu H, Xu Y, Cui F. Phylogenetic analysis of the ATP-binding cassette transporter family in three mosquito species. Pestic Biochem Physiol. 2016;132:118-24 pubmed publisher
    ..The highly expressed genes in larvae included three ABCA3 genes. The majority of the highly expressed genes in adults were ABCG1/4 genes...
  44. Gonçalves J, Pinheiro L, Costa M, Silva A, Gonçalves A, Pereira A. Novel ABCA3 mutations as a cause of respiratory distress in a term newborn. Gene. 2014;534:417-20 pubmed publisher
    ..She was found to be a compound heterozygote for both novel mutations in the ABCA3 gene. ABCA3 deficiency should be considered in mature babies who develop severe respiratory distress syndrome.
  45. Shanklin D, Mullins A, Baldwin H. Cerebropulmonary dysgenetic syndrome. Exp Mol Pathol. 2008;85:112-6 pubmed publisher
    ..results in bronchopulmonary dysplasia from congenital surfactant deficiency due to mutants of transporter protein ABCA3. Association of this condition with other severe disorders in premature newborns has not heretofore been reported...
  46. Moore G, Lines M, Geraghty M, de Nanassy J, Kovesi T. Novel mutation in ABCA3 resulting in fatal congenital surfactant deficiency in two siblings. Am J Respir Crit Care Med. 2014;189:750-2 pubmed publisher
  47. Jiang L, Wu Y, Xu X, Du L. Polymorphism analysis of the ABCA3 gene: association with neonatal respiratory distress syndrome in preterm infants. Chin Med J (Engl). 2012;125:1594-8 pubmed
    Previous reports indicated that mutations in the adenosine triphosphate (ATP)-binding cassette transporter A3 (ABCA3) cause fatal respiratory failure in term infants, and common ABCA3 gene polymorphisms have been characterized at the ..
  48. Fino K, Yang L, Silveyra P, Hu S, Umstead T, Diangelo S, et al. SH3GLB2/endophilin B2 regulates lung homeostasis and recovery from severe influenza A virus infection. Sci Rep. 2017;7:7262 pubmed publisher
    ..Compared to WT mice, the B2-deficient lungs exhibited induction of genes that express surfactant proteins, ABCA3, GM-CSF, podoplanin, and caveolin mRNA after 7 days, temporal induction of CCAAT/enhancer binding protein CEBPα, ..
  49. Wambach J, Casey A, Fishman M, Wegner D, Wert S, Cole F, et al. Genotype-phenotype correlations for infants and children with ABCA3 deficiency. Am J Respir Crit Care Med. 2014;189:1538-43 pubmed publisher
    Recessive mutations in the ATP-binding cassette transporter A3 (ABCA3) cause lethal neonatal respiratory failure and childhood interstitial lung disease. Most ABCA3 mutations are private.
  50. Panigrahy N, Poddutoor P, Chirla D. ATP-binding cassette transporter A3 (ABCA3) mutation in a late preterm with respiratory distress syndrome. Indian Pediatr. 2014;51:579-80 pubmed
    ..Surfactant protein abnormalities are rare causes of respiratory distress syndrome...
  51. Wambach J, Wegner D, Depass K, Heins H, Druley T, Mitra R, et al. Single ABCA3 mutations increase risk for neonatal respiratory distress syndrome. Pediatrics. 2012;130:e1575-82 pubmed publisher
    ..Neonatal respiratory distress syndrome (RDS) due to pulmonary surfactant deficiency is heritable, but common variants do not fully explain disease heritability...
  52. Szczawińska Popłonyk A, Breborowicz A, Langfort R. [Interstitial lung disease associated with surfactant protein B and C deficiencies]. Pneumonol Alergol Pol. 2010;78:224-8 pubmed
    ..SP-C deficiency is determined by it's defective synthesis or impaired production of ABCA3 transporter, as well as with abnormalities within different metabolic pathways...
  53. Schimanski S, Wild P, Treeck O, Horn F, Sigruener A, Rudolph C, et al. Expression of the lipid transporters ABCA3 and ABCA1 is diminished in human breast cancer tissue. Horm Metab Res. 2010;42:102-9 pubmed publisher
    ATP-binding cassette transporters ABCA3 and ABCA1 are related to a differentiated, lipid-secreting phenotype of type II pneumocytes...
  54. Tian W, Chen X, Qin H, Wei Q, Zhang S, Tang S, et al. The Haplotype TGGAG in the ABCA3 Gene Increases the Risk of Respiratory Distress Syndrome in Preterm Infants in Southern China. Pediatr neonatol. 2016;57:188-94 pubmed publisher
    Rare mutations in the ATP-binding cassette (ABC) transporter A3 (ABCA3) gene are associated with neonatal respiratory distress syndrome (RDS)...
  55. Aung T, Chapuy B, Vogel D, Wenzel D, Oppermann M, Lahmann M, et al. Exosomal evasion of humoral immunotherapy in aggressive B-cell lymphoma modulated by ATP-binding cassette transporter A3. Proc Natl Acad Sci U S A. 2011;108:15336-41 pubmed publisher
    ..biogenesis is modulated by the lysosome-related organelle-associated ATP-binding cassette (ABC) transporter A3 (ABCA3)...
  56. Höppner S, Kinting S, Torrano A, Schindlbeck U, Bräuchle C, Zarbock R, et al. Quantification of volume and lipid filling of intracellular vesicles carrying the ABCA3 transporter. Biochim Biophys Acta. 2017;1864:2330-2335 pubmed publisher
    The ABCA3 lipid transporter is located in the limiting membrane of lamellar bodies (LBs) in type-II-pneumocytes...
  57. Karjalainen M, Haataja R, Hallman M. Haplotype analysis of ABCA3: association with respiratory distress in very premature infants. Ann Med. 2008;40:56-65 pubmed publisher
    Adenosine triphosphate (ATP)-binding cassette transporter A3 (ABCA3) gene mutations cause fatal respiratory failure in term infants, but common ABCA3 polymorphisms have remained uncharacterized at the population level.
  58. Luo Y, Chen H, Ren S, Li N, Mishina Y, Shi W. BMP signaling is essential in neonatal surfactant production during respiratory adaptation. Am J Physiol Lung Cell Mol Physiol. 2016;311:L29-38 pubmed publisher
    ..accompanied by atelectasis in histopathology and significant reductions of surfactant protein B and C, as well as Abca3, whereas prenatal lung development was not significantly affected...
  59. Gulyas Kovacs A. Integrated analysis of residue coevolution and protein structure in ABC transporters. PLoS ONE. 2012;7:e36546 pubmed publisher
    ..Moreover, some identified pairs correspond to residues previously implicated in cystic fibrosis...
  60. Wambach J, Wegner D, Heins H, Druley T, Mitra R, Hamvas A, et al. Synonymous ABCA3 variants do not increase risk for neonatal respiratory distress syndrome. J Pediatr. 2014;164:1316-21.e3 pubmed publisher
    To determine whether synonymous variants in the adenosine triphosphate-binding cassette A3 transporter (ABCA3) gene increase the risk for neonatal respiratory distress syndrome (RDS) in term and late preterm infants of European and ..
  61. Patkar R, Xue Y, Shui G, Wenk M, Naqvi N. Abc3-mediated efflux of an endogenous digoxin-like steroidal glycoside by Magnaporthe oryzae is necessary for host invasion during blast disease. PLoS Pathog. 2012;8:e1002888 pubmed publisher
    ..oryzae. However, thus far, the molecular basis underlying impaired appressorial function in the abc3Δ remains elusive...
  62. Kitazawa H, Moriya K, Niizuma H, Kawano K, Saito Nanjo Y, Uchiyama T, et al. Interstitial lung disease in two brothers with novel compound heterozygous ABCA3 mutations. Eur J Pediatr. 2013;172:953-7 pubmed publisher
    Mutations in genes critical for surfactant metabolism, including surfactant protein C (SP-C) and ABCA3, are well-recognized causes of interstitial lung disease...