STARD7
Chr 2ADStAR related lipid transfer domain containing 7
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).
Some data sources returned errors (1)
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Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
STARD7 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools