Biology:RDH8
From HandWiki
Short description: Protein-coding gene in the species Homo sapiens
Generic protein structure example |
Retinol dehydrogenase 8 is an enzyme that in humans is encoded by the RDH8 gene.[1][2][3]
All-trans-retinol dehydrogenase (RDH8) is a visual cycle enzyme that reduces all-trans-retinal to all-trans-retinol in the presence of NADPH (Rattner et al., 2000). It is a member of the short chain dehydrogenase/reductase family and is located in the outer segments of photoreceptors; 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 (Rando, 2001). This is a rate-limiting step in the visual cycle (Saari et al., 1998).[supplied by OMIM][3]
References
- ↑ "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. May 2000. doi:10.1074/jbc.275.15.11034. PMID 10753906.
- ↑ "The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative". Chem Biol Interact 178 (1–3): 94–98. Feb 2009. doi:10.1016/j.cbi.2008.10.040. PMID 19027726.
- ↑ 3.0 3.1 "Entrez Gene: RDH8 retinol dehydrogenase 8 (all-trans)". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=50700.
Further reading
- Rando RR (2001). "The biochemistry of the visual cycle". Chem. Rev. 101 (7): 1881–1896. doi:10.1021/cr960141c. PMID 11710234.
- 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. 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. PMID 15322982.
- "An outer segment localization signal at the C terminus of the photoreceptor-specific retinol dehydrogenase". J. Neurosci. 24 (11): 2623–2632. 2004. doi:10.1523/JNEUROSCI.5302-03.2004. 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. PMID 12226107.
- "Reduction of all-trans-retinal limits regeneration of visual pigment in mice". Vision Res. 38 (10): 1325–1333. 1998. doi:10.1016/S0042-6989(97)00198-3. PMID 9667000.