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
- 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...