ACADM

Chr 1

acyl-CoA dehydrogenase medium chain

Also known as: ACAD1, MCAD, MCADH

NCBI Gene: 34 ENSG00000117054 UniProt: P11310

The encoded protein functions as a mitochondrial acyl-CoA dehydrogenase that catalyzes the initial step of medium-chain fatty acid beta-oxidation (C4-C12). Biallelic mutations cause medium-chain acyl-CoA dehydrogenase deficiency, an autosomal recessive disorder characterized by hepatic dysfunction, fasting hypoglycemia, and encephalopathy that can result in infantile death. The pathogenic mechanism involves loss of enzymatic function leading to impaired fatty acid oxidation.

ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

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]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtAcyl-CoA dehydrogenase medium-chain deficiency

Clinical highlights

Gene-disease validity (ClinGen)

medium chain acyl-CoA dehydrogenase deficiency · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.15

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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