STARD7

Chr 2AD

StAR related lipid transfer domain containing 7

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

Mediates non-vesicular transfer of phosphatidylcholine to mitochondria, thereby maintaining mitochondrial membrane lipid composition, cristae organization, and respiratory function across diverse tissues

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

Some data sources returned errors (1)

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