Entity Details

Primary name RDH12_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ96NR8
EntryNameRDH12_HUMAN
FullNameRetinol dehydrogenase 12
TaxID9606
Evidenceevidence at protein level
Length316
SequenceStatuscomplete
DateCreated2003-08-29
DateModified2021-06-02

Ontological Relatives

GenesRDH12

GO terms

Show/Hide Table
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

Subcellular Location

Show/Hide Table
Subcellular Location
Endoplasmic reticulum membrane

Domains

Show/Hide Table
DomainNameCategoryType
IPR002347 Short-chain dehydrogenase/reductase SDRFamilyFamily
IPR036291 NAD(P)-binding domain superfamilyFamilyHomologous superfamily

Diseases

Show/Hide Table
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.

Drugs

Show/Hide Table
DrugNameSourceType
DB00162 Vitamin ADrugbanksmall molecule