RDH8
entrez
50700
canonical
uniprot
Q9NYR8
canonical
ensembl
ENSG00000080511
resolver
ensp
ENSP00000466058
resolver
ensp
ENSP00000498711
resolver
enst
ENST00000591589
resolver
enst
ENST00000651512
resolver
genesymbol
RDH8
resolver
genesymbol_syn
PRRDH
resolver
genesymbol_syn
SDR28C2
resolver
hgnc
HGNC:14423
resolver
uniprot
K7ELF7
resolver
uniprot
Q9H838
resolver
uniprot_entry
K7ELF7_HUMAN
resolver
uniprot_entry
RDH8_HUMAN
resolver
uniprot_sec
Q9H838
resolver
amino_acid_sequence
MAAAPRTVLISGCSSGIGLELAVQLAHDPKKRYQVVATMRDLGKKETLEAAAGEALGQTLTVAQLDVCSDESVAQCLSCIQGEVDVLVNNAGMGLVGPLEGLSLAAMQNVFDTNFFGAVRLVKAVLPGMKRRRQGHIVVISSVMGLQGVIFNDVYAASKFALEGFFESLAIQLLQFNIFISLVEPGPVVTEFEGKLLAQVSMAEFPGTDPETLHYFRDLYLPASRKLFCSVGQNPQDVVQAIVNVISSTRPPLRRQTNIRYSPLTTLKTVDSSGSLYVRTTHRLLFRCPRLLNLGLQCLSCGCLPTRVRPR
uniprot
proteins
disease_involvement
DISEASE: Stargardt disease 5 (STGD5) [MIM:621259]: A form of Stargardt disease, a common hereditary macular degeneration characterized by decreased central vision, atrophy of the macula and underlying retinal pigment epithelium, and frequent presence of prominent flecks in the posterior pole of the retina. STGD5 is an autosomal recessive form characterized by onset of macular dystrophy in the fifth decade of life. {ECO:0000269|PubMed:37628710}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.1.1.300
uniprot
proteins
function
FUNCTION: Retinol dehydrogenase with a clear preference for NADP. Converts all-trans-retinal to all-trans-retinol. May play a role in the regeneration of visual pigment at high light intensity (By similarity). {ECO:0000250|UniProtKB:Q9N126}.
uniprot
proteins
mass_dalton
33755
uniprot
proteins
protein_family
Short-chain dehydrogenases/reductases (SDR) family
uniprot
proteins
pubmed
10753906
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
37628710
uniprot
proteins
sequence_length
311
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane {ECO:0000305|PubMed:10753906}; Multi-pass membrane protein {ECO:0000305}.
uniprot
proteins
transmembrane_region
TRANSMEM 86..106; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 137..157; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 169..189; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins