PROM1, Official Symbol PROM1provided by HGNC Official Full Name prominin 1provided by HGNC Primary source HGNC:HGNC:9454 See related Ensembl:ENSG00000007062 MIM:604365; AllianceGenome:HGNC:9454 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as RP41; AC133; CD133; MCDR2; STGD4; CORD12; PROML1; MSTP061 Summary 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] Expression Broad expression in gall bladder (RPKM 15.7), stomach (RPKM 10.2) and 18 other tissues See more Orthologs mouse all