LongevityMap Gene

Gene details

HGNC symbol: PROM1
Aliases: RP41; AC133; CD133; MCDR2; STGD4; CORD12; PROML1; MSTP061
Common name: prominin 1
Description: 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]
Cytogenetic Location: 4p15.32
UCSC Genome Browser: View 4p15.32 on the UCSC genome browser
OMIM: 604365
Ensembl: ENSG00000007062
UniProt/Swiss-Prot: A0A0A0N0M1_HUMAN
Entrez Gene: 8842
UniGene: 614734
1000 Genomes: 1000 Genomes

Significant/Non-significant: 1/0

Longevity Association

Significant

Population

American (Caucasian)

Study Design

Genome-wide association study in 801 centenarians and 914 healthy controls

Conclusions

281 SNPs were found to discriminate between cases and controls

Indentifier

rs1517598

Reference