Entity Details

Primary name RDH12
Entity type gene
Source Source Link

Details

PrimaryID145226
RefseqGeneNG_008321
SymbolRDH12
Nameretinol dehydrogenase 12
Chromosome14
Location14q24.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2002-01-21
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsRDH12_HUMAN

GO terms

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GOName
GO:0001523 retinoid metabolic process
GO:0001917 photoreceptor inner segment
GO:0004745 NAD-retinol dehydrogenase activity
GO:0005789 endoplasmic reticulum membrane
GO:0007601 visual perception
GO:0042572 retinol metabolic process
GO:0045494 photoreceptor cell maintenance
GO:0052650 NADP-retinol dehydrogenase activity
GO:0060342 photoreceptor inner segment membrane
GO:0102354 11-cis-retinol dehydrogenase activity
GO:0110095 cellular detoxification of aldehyde

Diseases

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Disease IDSourceNameDescription
612712 OMIMLeber congenital amaurosis 13 (LCA13)A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. The disease is caused by variants affecting the gene represented in this entry.
612712 OMIMLeber congenital amaurosis 13 (LCA13)A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. The disease is caused by variants affecting the gene represented in this entry.