Entrez gene ID | | 34 |
Official gene symbol | | ACADM |
Full name | | acyl-CoA dehydrogenase, C-4 to C-12 straight chain |
Aliases | | ,ACAD1,FLJ18227,FLJ93013,FLJ99884,MCAD,MCADH, |
Gene summary | | This gene encodes the medium-chain specific (C4 to C12 straight chain) acyl-Coenzyme A dehydrogenase. The homotetramer enzyme catalyzes the initial step of the mitochondrial fatty acid beta-oxidation pathway. Defects in this gene cause medium-chain acyl-CoA dehydrogenase deficiency, a disease characterized by hepatic dysfunction, fasting hypoglycemia, and encephalopathy, which can result in infantile death. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] |
Location | | Chromosome: 1 Locus: 1p31 |
Gene position | | 76190043 - 76229355 Map Viewer |
Gene orientation | | plus |
Gene size | | 39313 bp |
Gene sequence |
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OMIM ID | | 607008 |
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