Gene: PROM1

Alternate names for this Gene: AC133|CD133|CORD12|MCDR2|MSTP061|PROML1|RP41|STGD4

Gene 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.

Gene is located in Chromosome: 4

Location in Chromosome : 4p15.32

Description of this Gene: prominin 1

Type of Gene: protein-coding

rs17387100 in PROM1 gene and Bipolar Disorder PMID 24964207 2014 Genetic relationships between suicide attempts, suicidal ideation and major psychiatric disorders: a genome-wide association and polygenic scoring study.

rs137853006 in PROM1 gene and Bull's eye macular dystrophy PMID 18654668 2008 Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice.

rs137853006 in PROM1 gene and CONE-ROD DYSTROPHY 12 (disorder) PMID 18654668 2008 Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice.

PMID 19718270 2009 Cone-rod dystrophy and a frameshift mutation in the PROM1 gene.

PMID 10205271 1999 A new locus for autosomal dominant stargardt-like disease maps to chromosome 4.

rs796051882 in PROM1 gene and Cone-Rod Dystrophy 2 PMID 26153215 2016 Homozygosity mapping and whole-genome sequencing reveals a deep intronic PROM1 mutation causing cone-rod dystrophy by pseudoexon activation.

rs2531154 in PROM1 gene and Dental caries PMID 23064961 2013 GWAS of dental caries patterns in the permanent dentition.

rs116130729 in PROM1 gene and Intracranial Aneurysm PMID 29531279 2018 Genome-wide association analysis identifies new candidate risk loci for familial intracranial aneurysm in the French-Canadian population.

rs137853006 in PROM1 gene and Macular dystrophy PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs17387100 in PROM1 gene and Major Depressive Disorder PMID 24964207 2014 Genetic relationships between suicide attempts, suicidal ideation and major psychiatric disorders: a genome-wide association and polygenic scoring study.

rs137853005 in PROM1 gene and Retinal Dystrophies PMID 26872967 2016 Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.

PMID 18654668 2008 Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice.

PMID 22025579 2011 High-throughput retina-array for screening 93 genes involved in inherited retinal dystrophy.

PMID 26103963 2015 Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation.

PMID 24154662 2014 Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements.

PMID 19718270 2009 Cone-rod dystrophy and a frameshift mutation in the PROM1 gene.

PMID 25356976 2015 Genotype-phenotype correlation and mutation spectrum in a large cohort of patients with inherited retinal dystrophy revealed by next-generation sequencing.

rs137853005 in PROM1 gene and Retinitis Pigmentosa PMID 17605048 2007 Severe retinitis pigmentosa mapped to 4p15 and associated with a novel mutation in the PROM1 gene.

rs137853006 in PROM1 gene and STARGARDT DISEASE 1 (disorder) PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs137853006 in PROM1 gene and Stargardt disease 4 PMID 18654668 2008 Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice.

rs17387100 in PROM1 gene and Suicide attempt PMID 24964207 2014 Genetic relationships between suicide attempts, suicidal ideation and major psychiatric disorders: a genome-wide association and polygenic scoring study.