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单词 acadm
释义

ACADM


ACADM

A gene on chromosome 1p31, which encodes a medium-chain-specific (C4 to C12 straight chain) acyl-Coenzyme A dehydrogenase, which catalyses the initial step of the mitochondrial fatty acid beta-oxidation pathway.
Molecular pathology
ACADM defects cause medium-chain acyl-CoA dehydrogenase deficiency, a disease characterised by hepatic dysfunction, fasting hypoglycemia and encephalopathy, which causes death in infancy.

ACADM


AcronymDefinition
ACADMAcyl-CoA Dehydrogenase, Medium-Chain
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更新时间:2024/11/11 17:25:09