PROM1 Chromosome 4
Prominin 1
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What This Gene Does
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]
Gene Info
Gene Group
"CD molecules|Prominin family"
Locus Type
gene with protein product
Location
4p15.32
Ensembl
ENSG00000007062
Associated Conditions (21)
Retinal dystrophy
Retinitis pigmentosa 41
Cone-rod dystrophy 12
Retinal macular dystrophy type 2
Stargardt disease 4
Retinitis pigmentosa
Cone-rod dystrophy
PROM1-related disorder
Autosomal recessive retinitis pigmentosa
Familial cancer of breast
Inborn genetic diseases
Malignant tumor of urinary bladder
Retinal disorder
Optic atrophy
Stargardt disease
Cone-rod dystrophy 2
Leber congenital amaurosis
Leber congenital amaurosis 1
Isolated macular dystrophy
Usher syndrome
+1 more conditions
Key Variants
RS1033920857
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinitis pigmentosa 41, Cone-rod dystrophy 12
Health Risk
RS113895168
Conflicting classifications of pathogenicity
Retinal macular dystrophy type 2, Retinitis pigmentosa, Stargardt disease 4
Health Risk
RS1196489060
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinitis pigmentosa, Cone-rod dystrophy 12
Health Risk
RS1236769724
Conflicting classifications of pathogenicity
Health Risk
RS140027620
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinal macular dystrophy type 2, Stargardt disease 4
Health Risk
RS140362696
Conflicting classifications of pathogenicity
Retinal macular dystrophy type 2, Stargardt disease 4, Cone-rod dystrophy 12
Health Risk
RS140682455
Conflicting classifications of pathogenicity
Retinal macular dystrophy type 2, Cone-rod dystrophy 12, Retinitis pigmentosa
Health Risk
RS140872693
Conflicting classifications of pathogenicity
Stargardt disease 4, Retinal macular dystrophy type 2, Retinitis pigmentosa
Health Risk
RS142245630
Conflicting classifications of pathogenicity
Health Risk
RS143470288
Conflicting classifications of pathogenicity
Cone-rod dystrophy 12, Stargardt disease 4, Retinitis pigmentosa
Health Risk
RS144688616
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS146434364
Conflicting classifications of pathogenicity
Cone-rod dystrophy 12, Retinal macular dystrophy type 2, Stargardt disease 4
Health Risk
All Variants (202)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2149331785 | Health Risk | Pathogenic | — |
| RS2149381577 | Health Risk | Pathogenic | — |
| RS2149585436 | Health Risk | Pathogenic | — |
| RS2474888258 | Health Risk | Pathogenic | — |
| RS2474893506 | Health Risk | Pathogenic | — |
| RS2475050239 | Health Risk | Pathogenic | — |
| RS2475173295 | Health Risk | Pathogenic | — |
| RS2475231042 | Health Risk | Pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS2475275455 | Health Risk | Pathogenic | — |
| RS2475275702 | Health Risk | Pathogenic | Cone-rod dystrophy 12, Cone-rod dystrophy 12 |
| RS2475282541 | Health Risk | Pathogenic | — |
| RS2529780250 | Health Risk | Pathogenic | — |
| RS2530169373 | Health Risk | Pathogenic | — |
| RS2530419555 | Health Risk | Pathogenic | — |
| RS2530614365 | Health Risk | Pathogenic | — |
| RS2530614395 | Health Risk | Pathogenic | — |
| RS2530618280 | Health Risk | Pathogenic | — |
| RS2530925226 | Health Risk | Pathogenic | — |
| RS2531588221 | Health Risk | Pathogenic | — |
| RS368213921 | Health Risk | Pathogenic | Retinal dystrophy, Cone-rod dystrophy, Cone-rod dystrophy 12 |
| RS372513650 | Health Risk | Pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS373331232 | Health Risk | Pathogenic | Retinal dystrophy, Cone-rod dystrophy 12, Retinal dystrophy |
| RS530749007 | Health Risk | Pathogenic | Retinitis pigmentosa 41, Retinal dystrophy, Cone-rod dystrophy 12 |
| RS746174328 | Health Risk | Pathogenic | Retinitis pigmentosa 41, Retinal dystrophy, Retinitis pigmentosa 41 |
| RS748974608 | Health Risk | Pathogenic | — |
| RS751460221 | Health Risk | Pathogenic | — |
| RS761911901 | Health Risk | Pathogenic | Retinitis pigmentosa 41, Retinal macular dystrophy type 2, Stargardt disease 4 |
| RS762078182 | Health Risk | Pathogenic | Retinal dystrophy, Retinal dystrophy, Retinal dystrophy |
| RS777673930 | Health Risk | Pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS778618612 | Health Risk | Pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS779454059 | Health Risk | Pathogenic | — |
| RS780697796 | Health Risk | Pathogenic | Retinal dystrophy, Retinitis pigmentosa 41, Retinal dystrophy |
| RS886037612 | Health Risk | Pathogenic | Retinitis pigmentosa 41, Retinitis pigmentosa 41 |
| RS886037880 | Health Risk | Pathogenic | Cone-rod dystrophy 12, Stargardt disease 4, Cone-rod dystrophy |
| RS886037881 | Health Risk | Pathogenic | Cone-rod dystrophy 12, Cone-rod dystrophy, Cone-rod dystrophy 12 |
| RS1002373357 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS137853006 | Health Risk | Pathogenic/Likely pathogenic | Stargardt disease 4, Retinal macular dystrophy type 2, Cone-rod dystrophy 12 |
| RS1460604134 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy, PROM1-related disorder, Retinal dystrophy |
| RS1472802723 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS1553901823 | Health Risk | Pathogenic/Likely pathogenic | Cone-rod dystrophy, Retinal dystrophy, Cone-rod dystrophy |
| RS1577845276 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy, PROM1-related disorder, Retinal dystrophy |
| RS2149113303 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 41, Retinitis pigmentosa 41 |
| RS374017889 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 41, Cone-rod dystrophy 12, Retinitis pigmentosa 41 |
| RS543698823 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy, PROM1-related disorder, Cone-rod dystrophy 12 |
| RS745704627 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 41, Retinal dystrophy, Stargardt disease |
| RS747512450 | Health Risk | Pathogenic/Likely pathogenic | Leber congenital amaurosis 1, Retinitis pigmentosa 41, Cone-rod dystrophy 12 |
| RS752619497 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy, Cone-rod dystrophy 12, Stargardt disease 4 |
| RS761152494 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS766246531 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 41, Retinal dystrophy, Cone-rod dystrophy 12 |
| RS766357803 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa, Cone-rod dystrophy 12, Retinal dystrophy |