RDH5 Chromosome 12
Retinol dehydrogenase 5
Upload your DNA to see your personal genotypes for variants in RDH5.
What This Gene Does
This gene encodes an enzyme belonging to the short-chain dehydrogenases/reductases (SDR) family. This retinol dehydrogenase functions to catalyze the final step in the biosynthesis of 11-cis retinaldehyde, which is the universal chromophore of visual pigments. Mutations in this gene cause autosomal recessive fundus albipunctatus, a rare form of night blindness that is characterized by a delay in the regeneration of cone and rod photopigments. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring upstream BLOC1S1 (biogenesis of lysosomal organelles complex-1, subunit 1) gene. [provided by RefSeq, Dec 2010]
Gene Info
Gene Group
Short chain dehydrogenase/reductase superfamily
Locus Type
gene with protein product
Location
12q13.2
Ensembl
ENSG00000135437
Associated Conditions (10)
Fundus albipunctatus
autosomal recessive
Pigmentary retinal dystrophy
Retinitis pigmentosa
Retinal dystrophy
Optic atrophy
Retinitis punctata albescens
See cases
Congenital stationary night blindness
RDH5-related disorder
Key Variants
RS104894373
Conflicting classifications of pathogenicity
Fundus albipunctatus, autosomal recessive, Pigmentary retinal dystrophy
Health Risk
RS1058635
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Pigmentary retinal dystrophy, Retinal dystrophy
Health Risk
RS114473507
Conflicting classifications of pathogenicity
Retinal dystrophy, Pigmentary retinal dystrophy, Retinal dystrophy
Health Risk
RS139647623
Conflicting classifications of pathogenicity
Pigmentary retinal dystrophy, Pigmentary retinal dystrophy
Health Risk
RS1404823974
Conflicting classifications of pathogenicity
Health Risk
RS141783438
Conflicting classifications of pathogenicity
Health Risk
RS369461881
Conflicting classifications of pathogenicity
Pigmentary retinal dystrophy, Pigmentary retinal dystrophy
Health Risk
RS62638187
Conflicting classifications of pathogenicity
Pigmentary retinal dystrophy, Pigmentary retinal dystrophy
Health Risk
RS62638195
Conflicting classifications of pathogenicity
Pigmentary retinal dystrophy, Pigmentary retinal dystrophy
Health Risk
RS746999951
Conflicting classifications of pathogenicity
Pigmentary retinal dystrophy, Pigmentary retinal dystrophy
Health Risk
RS756680042
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
RS774648195
Conflicting classifications of pathogenicity
Pigmentary retinal dystrophy, Pigmentary retinal dystrophy
Health Risk
All Variants (54)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS104894373 | Health Risk | Conflicting classifications of pathogenicity | Fundus albipunctatus, autosomal recessive, Pigmentary retinal dystrophy |
| RS1058635 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Pigmentary retinal dystrophy, Retinal dystrophy |
| RS114473507 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Pigmentary retinal dystrophy, Retinal dystrophy |
| RS139647623 | Health Risk | Conflicting classifications of pathogenicity | Pigmentary retinal dystrophy, Pigmentary retinal dystrophy |
| RS1404823974 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS141783438 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS369461881 | Health Risk | Conflicting classifications of pathogenicity | Pigmentary retinal dystrophy, Pigmentary retinal dystrophy |
| RS62638187 | Health Risk | Conflicting classifications of pathogenicity | Pigmentary retinal dystrophy, Pigmentary retinal dystrophy |
| RS62638195 | Health Risk | Conflicting classifications of pathogenicity | Pigmentary retinal dystrophy, Pigmentary retinal dystrophy |
| RS746999951 | Health Risk | Conflicting classifications of pathogenicity | Pigmentary retinal dystrophy, Pigmentary retinal dystrophy |
| RS756680042 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Retinal dystrophy |
| RS774648195 | Health Risk | Conflicting classifications of pathogenicity | Pigmentary retinal dystrophy, Pigmentary retinal dystrophy |
| RS778777287 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Retinal dystrophy |
| RS1565653781 | Health Risk | Likely pathogenic | Pigmentary retinal dystrophy, Pigmentary retinal dystrophy |
| RS1876913255 | Health Risk | Likely pathogenic | Pigmentary retinal dystrophy, Pigmentary retinal dystrophy |
| RS2540004249 | Health Risk | Likely pathogenic | — |
| RS769619405 | Health Risk | Likely pathogenic | Pigmentary retinal dystrophy, Pigmentary retinal dystrophy |
| RS104894374 | Health Risk | Pathogenic | Fundus albipunctatus, autosomal recessive, Pigmentary retinal dystrophy |
| RS111033593 | Health Risk | Pathogenic | Fundus albipunctatus, autosomal recessive, Pigmentary retinal dystrophy |
| RS1298361085 | Health Risk | Pathogenic | — |
| RS1359478892 | Health Risk | Pathogenic | — |
| RS1390835981 | Health Risk | Pathogenic | — |
| RS1488443545 | Health Risk | Pathogenic | — |
| RS1592521438 | Health Risk | Pathogenic | Pigmentary retinal dystrophy, Pigmentary retinal dystrophy |
| RS1592521712 | Health Risk | Pathogenic | Pigmentary retinal dystrophy, Pigmentary retinal dystrophy |
| RS1876909996 | Health Risk | Pathogenic | — |
| RS1876916255 | Health Risk | Pathogenic | — |
| RS1877065693 | Health Risk | Pathogenic | — |
| RS2136138688 | Health Risk | Pathogenic | — |
| RS2136142116 | Health Risk | Pathogenic | Pigmentary retinal dystrophy, Pigmentary retinal dystrophy |
| RS2136142315 | Health Risk | Pathogenic | — |
| RS2540002344 | Health Risk | Pathogenic | — |
| RS2540004166 | Health Risk | Pathogenic | — |
| RS267607006 | Health Risk | Pathogenic | Fundus albipunctatus, autosomal recessive, Pigmentary retinal dystrophy |
| RS34619378 | Health Risk | Pathogenic | — |
| RS375135224 | Health Risk | Pathogenic | Retinal dystrophy, Pigmentary retinal dystrophy, Retinal dystrophy |
| RS62638194 | Health Risk | Pathogenic | Fundus albipunctatus, autosomal recessive, Fundus albipunctatus |
| RS753378940 | Health Risk | Pathogenic | Retinitis punctata albescens, Retinitis punctata albescens |
| RS755766300 | Health Risk | Pathogenic | — |
| RS759359491 | Health Risk | Pathogenic | Pigmentary retinal dystrophy, Pigmentary retinal dystrophy |
| RS763855790 | Health Risk | Pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS765110211 | Health Risk | Pathogenic | — |
| RS765714290 | Health Risk | Pathogenic | — |
| RS769035379 | Health Risk | Pathogenic | Pigmentary retinal dystrophy, Pigmentary retinal dystrophy |
| RS773633834 | Health Risk | Pathogenic | — |
| RS776634113 | Health Risk | Pathogenic | Pigmentary retinal dystrophy, Pigmentary retinal dystrophy |
| RS781112960 | Health Risk | Pathogenic | Retinal dystrophy, Pigmentary retinal dystrophy, Retinal dystrophy |
| RS199877211 | Health Risk | Pathogenic/Likely pathogenic | Pigmentary retinal dystrophy, Pigmentary retinal dystrophy |
| RS375788435 | Health Risk | Pathogenic/Likely pathogenic | Pigmentary retinal dystrophy, Pigmentary retinal dystrophy |
| RS377029071 | Health Risk | Pathogenic/Likely pathogenic | Pigmentary retinal dystrophy, Pigmentary retinal dystrophy |