PROM1
Chr 4ADARprominin 1
Also known as: AC133, CD133, CORD12, MCDR2, MSTP061, PROML1, RP41, STGD4
The PROM1 protein is a pentaspan transmembrane glycoprotein that localizes to membrane protrusions, binds cholesterol in plasma membrane microdomains, and serves as a key regulator of retinal disk morphogenesis during early eye development. Mutations cause various forms of inherited retinal dystrophy including cone-rod dystrophy, Stargardt disease, retinitis pigmentosa, and macular dystrophy, primarily affecting vision through progressive degeneration of photoreceptors. The gene shows both autosomal dominant and autosomal recessive inheritance patterns and is not highly constrained against loss-of-function variants.
Primary Disease Associations & Inheritance
Definitive — sufficient evidence for diagnostic panels
2 total gene-disease associations curated
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
This gene has evidence for multiple mechanisms of pathogenicity (dominant-negative and gain-of-function). The Badonyi & Marsh model scores gain-of-function highest among its predictions, but genomic evidence (constraint, ClinVar variant spectrum, and literature) most strongly supports dominant-negative. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Literature Evidence
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
PROM1 · 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