RDH12
entrez
145226
canonical
uniprot
Q96NR8
canonical
ensembl
ENSG00000139988
resolver
ensp
ENSP00000267502
resolver
ensp
ENSP00000449079
resolver
enst
ENST00000267502
resolver
enst
ENST00000551171
resolver
genesymbol
RDH12
resolver
genesymbol_syn
SDR7C2
resolver
hgnc
HGNC:19977
resolver
uniprot
A0A0S2Z613
resolver
uniprot
B2RDA2
resolver
uniprot
Q8TAW6
resolver
uniprot_entry
A0A0S2Z613_HUMAN
resolver
uniprot_entry
RDH12_HUMAN
resolver
uniprot_sec
B2RDA2
resolver
uniprot_sec
Q8TAW6
resolver
amino_acid_sequence
MLVTLGLLTSFFSFLYMVAPSIRKFFAGGVCRTNVQLPGKVVVITGANTGIGKETARELASRGARVYIACRDVLKGESAASEIRVDTKNSQVLVRKLDLSDTKSIRAFAEGFLAEEKQLHILINNAGVMMCPYSKTADGFETHLGVNHLGHFLLTYLLLERLKVSAPARVVNVSSVAHHIGKIPFHDLQSEKRYSRGFAYCHSKLANVLFTRELAKRLQGTGVTTYAVHPGVVRSELVRHSSLLCLLWRLFSPFVKTAREGAQTSLHCALAEGLEPLSGKYFSDCKRTWVSPRARNNKTAERLWNVSCELLGIRWE
uniprot
proteins
disease_involvement
DISEASE: Leber congenital amaurosis 13 (LCA13) [MIM:612712]: 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. {ECO:0000269|PubMed:15258582, ECO:0000269|PubMed:15322982}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Retinitis pigmentosa 53 (RP53) [MIM:612712]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP53 inheritance is autosomal dominant or autosomal recessive. {ECO:0000269|PubMed:19140180, ECO:0000269|PubMed:19956407, ECO:0000269|PubMed:26124963}. 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: Retinoids dehydrogenase/reductase with a clear preference for NADP. Displays high activity towards 9-cis, 11-cis and all-trans-retinal. Shows very weak activity towards 13-cis-retinol (PubMed:12226107, PubMed:15865448). Also exhibits activity, albeit with lower affinity than for retinaldehydes, towards lipid peroxidation products (C9 aldehydes) such as 4-hydroxynonenal and trans-2-nonenal (PubMed:15865448, PubMed:19686838). May play an important function in photoreceptor cells to detoxify 4-hydroxynonenal and potentially other toxic aldehyde products resulting from lipid peroxidation (PubMed:19686838). Has no dehydrogenase activity towards steroids (PubMed:12226107, PubMed:15865448). {ECO:0000269|PubMed:12226107, ECO:0000269|PubMed:15865448, ECO:0000269|PubMed:19686838}.
uniprot
proteins
mass_dalton
35094
uniprot
proteins
pathway_participation
PATHWAY: Cofactor metabolism; retinol metabolism. {ECO:0000269|PubMed:12226107}.
uniprot
proteins
protein_family
Short-chain dehydrogenases/reductases (SDR) family
uniprot
proteins
pubmed
12226107
uniprot
proteins
pubmed
12508121
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15258582
uniprot
proteins
pubmed
15322982
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15865448
uniprot
proteins
pubmed
16269441
uniprot
proteins
pubmed
19140180
uniprot
proteins
pubmed
19686838
uniprot
proteins
pubmed
19956407
uniprot
proteins
pubmed
21602930
uniprot
proteins
pubmed
26124963
uniprot
proteins
sequence_length
316
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:15865448}.
uniprot
proteins