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ACADM acyl-CoA dehydrogenase, C-4 to C-12 straight chain

Also known as: MCAD; ACAD1; MCADH

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, Jul 2008]

Genomic context

Location:
1p31
Sequence:
Chromosome: 1; NC_000001.11 (75724347..75763679)
Total number of exons:
13

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