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Protein-coding gene in humans
Retinol dehydrogenase 8 is an enzyme that in humans is encoded by the RDH8 gene .[ 5] [ 7]
All-trans-retinol dehydrogenase (RDH8) is a visual cycle enzyme that reduces all-trans-retinal to all-trans-retinol in the presence of NADPH.[ 5] photoreceptor cells ; hence it is also known as photoreceptor retinol dehydrogenase . It is important in the visual cycle by beginning the rhodopsin regeneration pathway by reducing all-trans-retinal, the product of bleached and hydrolysed rhodopsin .[ 8] [ 9] [ 7]
^ a b c GRCh38: Ensembl release 89: ENSG00000080511 – Ensembl , May 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000053773 – Ensembl , May 2017^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ a b Rattner A, Smallwood PM, Nathans J (May 2000). "Identification and characterization of all-trans-retinol dehydrogenase from photoreceptor outer segments, the visual cycle enzyme that reduces all-trans-retinal to all-trans-retinol" . J Biol Chem . 275 (15): 11034–11043. doi :10.1074/jbc.275.15.11034 PMID 10753906 . ^ a b "Entrez Gene: RDH8 retinol dehydrogenase 8 (all-trans)" .^ Rando RR (2001). "The biochemistry of the visual cycle". Chem. Rev . 101 (7): 1881–1896. doi :10.1021/cr960141c . PMID 11710234 . ^ Saari JC, Garwin GG, Van Hooser JP, et al. (1998). "Reduction of all-trans-retinal limits regeneration of visual pigment in mice". Vision Res . 38 (10): 1325–1333. doi :10.1016/S0042-6989(97)00198-3 . PMID 9667000 . S2CID 16267177 .
Maeda A, Maeda T, Imanishi Y, et al. (2005). "Role of photoreceptor-specific retinol dehydrogenase in the retinoid cycle in vivo" . J. Biol. Chem . 280 (19): 18822–18832. doi :10.1074/jbc.M501757200 PMC 1283069 PMID 15755727 . Perrault I, Hanein S, Gerber S, et al. (2004). "Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis" . Am. J. Hum. Genet . 75 (4): 639–646. doi :10.1086/424889 . PMC 1182050 PMID 15322982 . Luo W, Marsh-Armstrong N, Rattner A, et al. (2004). "An outer segment localization signal at the C terminus of the photoreceptor-specific retinol dehydrogenase" . J. Neurosci . 24 (11): 2623–2632. doi :10.1523/JNEUROSCI.5302-03.2004 PMC 6729528 PMID 15028754 . Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs" . Nat. Genet . 36 (1): 40–45. doi :10.1038/ng1285 PMID 14702039 . Haeseleer F, Jang GF, Imanishi Y, et al. (2003). "Dual-substrate specificity short chain retinol dehydrogenases from the vertebrate retina" . J. Biol. Chem . 277 (47): 45537–45546. doi :10.1074/jbc.M208882200 PMC 1435693 PMID 12226107 .
