PROM1

Chr 4ADAR

prominin 1

Also known as: AC133, CD133, CORD12, MCDR2, MSTP061, PROML1, RP41, STGD4

NCBI Gene: 8842 ENSG00000007062 UniProt: O43490 OMIM: 604365

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.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a pentaspan transmembrane glycoprotein. The protein localizes to membrane protrusions and is often expressed on adult stem cells, where it is thought to function in maintaining stem cell properties by suppressing differentiation. Mutations in this gene have been shown to result in retinitis pigmentosa and Stargardt disease. Expression of this gene is also associated with several types of cancer. This gene is expressed from at least five alternative promoters that are expressed in a tissue-dependent manner. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Cone-rod dystrophy 12MIM #612657

ADAR

Macular dystrophy, retinal, 2MIM #608051

Retinitis pigmentosa 41MIM #612095

Stargardt disease 4MIM #603786

Clinical highlights

Gene-disease validity (ClinGen)

PROM1-related dominant retinopathy · ADDefinitivesufficient evidence for diagnostic panels2 gene-disease associations curated in total

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.05

LOEUF

LOF

Mechanism· G2P

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GeneReview available — PROM1