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:...
7 KB (943 words) - 03:11, 9 May 2024
HGNC:9937 P35243 13572 RD3 HGNC:19689 Q7Z3Z2 13573 RD3L HGNC:40912 P0DJH9 13574 RDH5 HGNC:9940 Q92781 13575 RDH8 HGNC:14423 Q9NYR8 13576 RDH10 HGNC:19975 Q8IZV5...
282 KB (17 words) - 07:55, 20 June 2024
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...
2 KB (266 words) - 12:49, 26 August 2023
kidneys, and other tissues. HSD17B9: Also known as retinol dehydrogenase 5 (RDH5). Involved in retinoid metabolism. Mutations are associated with fundus albipunctatus...
31 KB (2,644 words) - 15:20, 12 May 2024
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...
5 KB (486 words) - 04:29, 8 November 2023
protein 1. In comparison, fundus albipunctatus is caused by mutations in RDH5 gene for an 11-cis-RDH in retinal pigment epithelium cells. Ophthalmology...
14 KB (1,870 words) - 17:53, 15 June 2024
treatment. The missense mutation in gene rdh5, which codes for microsomal 11-cis-retinol dehydrogenase (RDH5), causes fundus albipunctatus, whose symptoms...
14 KB (1,491 words) - 22:48, 27 March 2024
3α-hydroxysteroid oxidase activity, such as AKR1C2, HSD17B6, HSD17B10, RDH16, RDH5, and DHRS9. This oxidation is not required in the classical androgen pathway...
79 KB (8,729 words) - 02:51, 24 May 2024
minor phenotype associated with mutations in 11-cis-retinol dehydrogenase (RDH5) causing fundus albipunctatus in humans. ENSG00000274418, ENSG00000276341...
7 KB (1,012 words) - 03:12, 9 May 2024
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%...
15 KB (1,186 words) - 01:49, 3 December 2023