FAM151A
Chr 1family with sequence similarity 151 member A
Also known as: C1orf179
The protein is located in extracellular exosomes but its specific function is not well characterized. Mutations in this gene cause autosomal recessive cone-rod dystrophy, a progressive retinal degeneration affecting both cone and rod photoreceptors that typically begins in childhood or adolescence. The gene shows tolerance to loss-of-function variants (pLI near 0, LOEUF 1.5), consistent with the recessive inheritance pattern observed in retinal dystrophy cases.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
FAM151A · 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 →No open access results found
External Resources
Links to major genomics databases and tools