Genomes and Genes
Gene Symbol: ACADSB
Description: acyl-CoA dehydrogenase short/branched chain
Alias: 2-MEBCAD, ACAD7, SBCAD, short/branched chain specific acyl-CoA dehydrogenase, mitochondrial, 2-methyl branched chain acyl-CoA dehydrogenase, 2-methylbutyryl-coenzyme A dehydrogenase, acyl-Coenzyme A dehydrogenase, short/branched chain
- Ahn J, Yu K, Stolzenberg Solomon R, Simon K, McCullough M, Gallicchio L, et al. Genome-wide association study of circulating vitamin D levels. Hum Mol Genet. 2010;19:2739-45 pubmed publisher..13 in the vicinity of ACADSB (acyl-Coenzyme A dehydrogenase), involved in cholesterol and vitamin D synthesis (P=3...
- Gibson K, Burlingame T, Hogema B, Jakobs C, Schutgens R, Millington D, et al. 2-Methylbutyryl-coenzyme A dehydrogenase deficiency: a new inborn error of L-isoleucine metabolism. Pediatr Res. 2000;47:830-3 pubmed..Prenatal diagnosis in a subsequent pregnancy suggested an affected female fetus, supporting an autosomal recessive mode of inheritance. These data confirm the first documented case of isolated 2-MBCDase deficiency in humans. ..
- Arden K, Viars C, Fu K, Rozen R. Localization of short/branched chain acyl-CoA dehydrogenase (ACADSB) to human chromosome 10. Genomics. 1995;25:743-5 pubmedShort/branched chain acyl-CoA dehydrogenase, SBCAD (gene symbol ACADSB), is a member of the acyl-CoA dehydrogenase family of genes with activity toward the short/branched chain acyl-CoA derivatives as well as short/straight chain acyl-..
- Andresen B, Christensen E, Corydon T, Bross P, Pilgaard B, Wanders R, et al. Isolated 2-methylbutyrylglycinuria caused by short/branched-chain acyl-CoA dehydrogenase deficiency: identification of a new enzyme defect, resolution of its molecular basis, and evidence for distinct acyl-CoA dehydrogenases in isoleucine and valine . Am J Hum Genet. 2000;67:1095-103 pubmed..ACAD A625 variant allele and no mutations in ACAD-8 but a 100-bp deletion in short/branched-chain ACAD (SBCAD) cDNA from the patient...
- Saenger A, Nguyen T, Vockley J, Stankovich M. Biochemical and electrochemical characterization of two variant human short-chain acyl-CoA dehydrogenases. Biochemistry. 2005;44:16035-42 pubmed....
- Saenger A, Nguyen T, Vockley J, Stankovich M. Thermodynamic regulation of human short-chain acyl-CoA dehydrogenase by substrate and product binding. Biochemistry. 2005;44:16043-53 pubmed..These results indicate that substrate redox activation occurs in hSCAD leading to a large enzyme midpoint potential shift. Substrate binding in hSCAD appears to make a larger contribution than does product to thermodynamic modulation. ..
- Kamide K, Kokubo Y, Yang J, Matayoshi T, Inamoto N, Takiuchi S, et al. Association of genetic polymorphisms of ACADSB and COMT with human hypertension. J Hypertens. 2007;25:103-10 pubmed..We previously identified three differentially expressed genes, Acadsb (short/branched chain acyl-CoA dehydrogenase), Comt (catecholamine-O-methyltransferase), and Pnpo (pyridoxine 5'-..
- Alfardan J, Mohsen A, Copeland S, Ellison J, Keppen Davis L, Rohrbach M, et al. Characterization of new ACADSB gene sequence mutations and clinical implications in patients with 2-methylbutyrylglycinuria identified by newborn screening. Mol Genet Metab. 2010;100:333-8 pubmed publisher..and bidirectional sequencing were performed on genomic DNA from five of the patients covering the entire SBCAD (ACADSB) gene sequence of 11 exons...
- Calvo S, Compton A, Hershman S, Lim S, Lieber D, Tucker E, et al. Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. Sci Transl Med. 2012;4:118ra10 pubmed publisher..The pathogenicity of two such genes, NDUFB3 and AGK, was supported by complementation studies and evidence from multiple patients, respectively. The results underscore the potential and challenges of deploying NGS in clinical settings. ..
- Rozen R, Vockley J, Zhou L, Milos R, Willard J, Fu K, et al. Isolation and expression of a cDNA encoding the precursor for a novel member (ACADSB) of the acyl-CoA dehydrogenase gene family. Genomics. 1994;24:280-7 pubmed..A cDNA encoding the human precursor for a novel member (gene symbol ACADSB) of the ACD gene family has been isolated and characterized. The open reading frame of 1...
- He M, Burghardt T, Vockley J. A novel approach to the characterization of substrate specificity in short/branched chain Acyl-CoA dehydrogenase. J Biol Chem. 2003;278:37974-86 pubmed..Rat short/branched chain acyl-CoA dehydrogenases (SBCAD) are more active toward substrates with longer carbon side chains than human SBCAD, whereas the human enzyme ..
- Madsen P, Kibaek M, Roca X, Sachidanandam R, Krainer A, Christensen E, et al. Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping. Hum Genet. 2006;118:680-90 pubmed..Until now, seven mutations in the SBCAD gene have been reported, but only three have been tested experimentally...
- van Calcar S, Baker M, Williams P, Jones S, Xiong B, Thao M, et al. Prevalence and mutation analysis of short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD) detected on newborn screening in Wisconsin. Mol Genet Metab. 2013;110:111-5 pubmed publisher..1165 A>G mutation in the ACADSB gene. The purposes of this study were to: (a) estimate the prevalence of SBCADD and carrier frequency of the c...
- Moriggi M, Pastorelli L, Torretta E, Tontini G, Capitanio D, Bogetto S, et al. Contribution of Extracellular Matrix and Signal Mechanotransduction to Epithelial Cell Damage in Inflammatory Bowel Disease Patients: A Proteomic Study. Proteomics. 2017;17: pubmed publisher....