Entity Details

Primary name RDH5
Entity type gene
Source Source Link

Details

PrimaryID5959
RefseqGeneNG_008606
SymbolRDH5
Nameretinol dehydrogenase 5
Chromosome12
Location12q13.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-05-08
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsRDH5_HUMAN

GO terms

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GOName
GO:0001523 retinoid metabolic process
GO:0004745 NAD-retinol dehydrogenase activity
GO:0005788 endoplasmic reticulum lumen
GO:0005789 endoplasmic reticulum membrane
GO:0007601 visual perception
GO:0008202 steroid metabolic process
GO:0016021 integral component of membrane
GO:0042572 retinol metabolic process
GO:0042803 protein homodimerization activity
GO:0044297 cell body
GO:0047023 androsterone dehydrogenase activity
GO:0047044 androstan-3-alpha,17-beta-diol dehydrogenase activity
GO:0050896 response to stimulus

Diseases

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Disease IDSourceNameDescription
136880 OMIMRetinitis punctata albescens (RPA)A form of fleck retina disease characterized by aggregation of white flecks posteriorly in the retina, causing night blindness and delayed dark adaptation. It differs from fundus albipunctatus in being progressive and evolving to generalized atrophy of the retina. The disease is caused by variants affecting the gene represented in this entry.

Interactions

9 interactions