| RDH8 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | RDH8, PRRDH, SDR28C2, retinol dehydrogenase 8 (all-trans), retinol dehydrogenase 8 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 608575 MGI: 2685028 HomoloGene: 41062 GeneCards: RDH8 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Retinol dehydrogenase 8 is an enzyme that in humans is encoded by the RDH8 gene.[5][6][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] It is a member of the short chain dehydrogenase/reductase family and is located in the outer segments of the 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] This is a rate-limiting step in the visual cycle.[9][supplied by OMIM][7]
References
- 1 2 3 GRCh38: Ensembl release 89: ENSG00000080511 - Ensembl, May 2017
- 1 2 3 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.
- 1 2 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.
- ↑ Persson B, Kallberg Y, Bray JE, Bruford E, Dellaporta SL, Favia AD, Duarte RG, Jornvall H, Kavanagh KL, Kedishvili N, Kisiela M, Maser E, Mindnich R, Orchard S, Penning TM, Thornton JM, Adamski J, Oppermann U (Feb 2009). "The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative". Chem Biol Interact. 178 (1–3): 94–98. doi:10.1016/j.cbi.2008.10.040. PMC 2896744. PMID 19027726.
- 1 2 "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, Palczewski K (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.
Further reading
- 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, Nathans J (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.
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