MLYCD

Chr 16

malonyl-CoA decarboxylase

Also known as: MCD

NCBI Gene: 23417 ENSG00000103150 UniProt: O95822

The protein catalyzes the conversion of malonyl-CoA to acetyl-CoA, regulating fatty acid oxidation and the metabolic balance between glucose and lipid utilization in muscle. Mutations cause malonyl-CoA decarboxylase deficiency, an autosomal recessive disorder affecting fatty acid metabolism. The gene shows minimal constraint against loss-of-function variants (pLI 0.0006, LOEUF 0.837), consistent with the recessive inheritance pattern.

ResearchSummary from RefSeq, OMIM, UniProt

The product of this gene catalyzes the breakdown of malonyl-CoA to acetyl-CoA and carbon dioxide. Malonyl-CoA is an intermediate in fatty acid biosynthesis, and also inhibits the transport of fatty acyl CoAs into mitochondria. Consequently, the encoded protein acts to increase the rate of fatty acid oxidation. It is found in mitochondria, peroxisomes, and the cytoplasm. Mutations in this gene result in malonyl-CoA decarboyxlase deficiency. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtMalonyl-CoA decarboxylase deficiency

Clinical highlights

Gene-disease validity (ClinGen)

malonic aciduria · 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)

—

P/LP submissions

—

P/LP missense

0.84

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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