MECR

Chr 1

mitochondrial trans-2-enoyl-CoA reductase

Also known as: CGI-63, DYTOABG, ETR1, FASN2B, NRBF1, OPA16

NCBI Gene: 51102 ENSG00000116353 UniProt: Q9BV79

The protein is a mitochondrial oxidoreductase that catalyzes the final step in mitochondrial fatty acid synthesis. Autosomal recessive mutations cause childhood-onset dystonia with optic atrophy and basal ganglia abnormalities. The pathogenic mechanism involves loss of function, disrupting mitochondrial fatty acid biosynthesis essential for proper neuronal function.

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

The protein encoded by this gene is an oxidoreductase that catalyzes the last step in mitochondrial fatty acid synthesis. Defects in this gene are a cause of childhood-onset dystonia and optic atrophy. [provided by RefSeq, Mar 2017]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtDystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities

UniProtOptic atrophy 16

Clinical highlights

Gene-disease validity (ClinGen)

Leigh syndrome · ARModerateconsider for supplementary testing

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

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P/LP missense

0.85

LOEUF

LOF

Mechanism· G2P

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GeneReview available — MECR