ACADSB
From Wikipedia, the free encyclopedia
| short/branched chain specific acyl-CoA dehydrogenase | |
|---|---|
 Cartoon diagram of human short/branched-chain acyl-CoA dehydrogenase in complex with FAD and CoASH. Chloride ions visible as green spheres. From PDB 2JIF |
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| Identifiers | |
| Symbol | ACADSB |
| Entrez | 36 |
| HUGO | 91 |
| OMIM | 600301 |
| RefSeq | NM_001609 |
| UniProt | P45954 |
| Other data | |
| EC number | 1.3.99.3 |
| Locus | Chr. 10 q25-q26 |
ACADSB is a human gene that encodes short/branched chain specific acyl-CoA dehydrogenase (SBCAD), an enzyme in the acyl CoA dehydrogenase family.
It can cause short/branched-chain acyl-CoA dehydrogenase deficiency.[1]
References [edit]
- ^ Andresen BS, Christensen E, Corydon TJ, et al (November 2000). "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 metabolism". Am. J. Hum. Genet. 67 (5): 1095–103. doi:10.1086/303105. PMC 1288551. PMID 11013134.
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