STARD7

Chr 2AD

StAR related lipid transfer domain containing 7

Also known as: ADCME, BAFME2, FAME, FAME2, FCMTE2, GTT1

NCBI Gene: 56910 ENSG00000084090 UniProt: Q9NQZ5 OMIM: 616712

STARD7 encodes a protein with molecular carrier activity that is predicted to be involved in ubiquinone biosynthesis and located in mitochondria. Mutations cause familial adult myoclonic epilepsy 2, an autosomal dominant disorder with adult onset as indicated by the phenotype name. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.485).

OMIM ResearchSummary from RefSeq, OMIM, UniProt

Enables phosphatidylcholine transfer activity. Involved in intermembrane phospholipid transfer; mitochondrial membrane organization; and regulation of cellular respiration. Located in cytosol; mitochondrial intermembrane space; and mitochondrial outer membrane. Implicated in familial adult myoclonic epilepsy 2. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Epilepsy, familial adult myoclonic, 2MIM #607876

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.48

LOEUF

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Mechanism