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Protein-coding gene in humans
11-cis retinol dehydrogenase is an enzyme that in humans is encoded by the RDH5 gene. GRCh38: Ensembl release 89: ENSG00000135437 – Ensembl, May 2017 GRCm38:
RDH5
Class of enzymes
11-cis-retinol dehydrogenase (EC 1.1.1.315, RDH5 (gene)) is an enzyme with systematic name 11-cis-retinol:NAD+ oxidoreductase. This enzyme catalyses the
11-cis-retinol_dehydrogenase
Protein-coding gene in humans
known human retinal disease. RDH10 may partially compensate for loss of RDH5 function in fundus albipunctatus. RDH10 overexpression is associated with
RDH10
1998 recessive retinitis pigmentosa RP1 1999 dominant retinitis pigmentosa RDH5 1999 fundus albipunctatus RPGRIP1 2001 congenital retinal blindness RGS9
Thaddeus_Dryja
Class of enzymes
kidneys, and other tissues. HSD17B9: Also known as retinol dehydrogenase 5 (RDH5). Involved in retinoid metabolism. Mutations are associated with fundus albipunctatus
17β-Hydroxysteroid dehydrogenase
17β-Hydroxysteroid_dehydrogenase
Class of enzymes
treatment. The missense mutation in gene rdh5, which codes for microsomal 11-cis-retinol dehydrogenase (RDH5), causes fundus albipunctatus, whose symptoms
Retinol_dehydrogenase
Protein-coding gene in the species Homo sapiens
aa 33% 53% KDSR NP002026 [19] 332 aa 31% 51% HSD11B1 AAK83653 [20] 292 aa 29% 50% DHRS9 AAH58883 [21] 319 aa 29% 50% RDH5 AAH28298 [22] 318 aa 30% 49%
DHRS7B
Protein family
HSD17B8; HSDL1; HSDL2; PECR; QDPR; RDH10; RDH11; RDH12; RDH13; RDH14; RDH16; RDH5; RDH8; RDHE2; RDHS; SCDR10; SPR; WWOX; Ghosh D, Erman M, Wawrzak Z, Duax
Short-chain_dehydrogenase
Series of interconnected biochemical reactions
3α-hydroxysteroid oxidase activity, such as AKR1C2, HSD17B6, HSD17B10, RDH16, RDH5, and DHRS9. This oxidation is not required in the classical androgen pathway
Androgen_backdoor_pathway
Eye disease
protein 1. In comparison, fundus albipunctatus is caused by mutations in RDH5 gene for an 11-cis-RDH in retinal pigment epithelium cells. Ophthalmology
White_dot_syndromes
P35243 13577 RD3 HGNC:19689; Q7Z3Z2 13578 RD3L HGNC:40912; P0DJH9 13579 RDH5 HGNC:9940; Q92781 13580 RDH8 HGNC:14423; Q9NYR8 13581 RDH10 HGNC:19975; Q8IZV5
List of human protein-coding genes 7
List_of_human_protein-coding_genes_7
Protein-coding gene in humans
minor phenotype associated with mutations in 11-cis-retinol dehydrogenase (RDH5) causing fundus albipunctatus in humans. ENSG00000274418, ENSG00000276341
RDH13
228930; WNT7A Fumarase deficiency; 606812; FH Fundus albipunctatus; 136880; RDH5 Fundus albipunctatus; 136880; RLBP1 Fundus flavimaculatus; 248200; ABCA4
List_of_OMIM_disorder_codes
RDH5
RDH5
RDH5
RDH5
RDH5
RDH5
RDH5
RDH5
RDH5