RDH8

Retinol dehydrogenase 8 is an enzyme that in humans is encoded by the RDH8 gene.[5][6][7]

RDH8
Identifiers
Aliases	RDH8, PRRDH, SDR28C2, retinol dehydrogenase 8 (all-trans), retinol dehydrogenase 8
External IDs	OMIM: 608575 MGI: 2685028 HomoloGene: 41062 GeneCards: RDH8
Gene location (Human) Chr. Chromosome 19 (human)[1] Band 19p13.2 Start 10,013,249 bp[1] End 10,022,279 bp[1]
Gene location (Mouse) Chr. Chromosome 9 (mouse)[2] Band 9|9 A3 Start 20,818,503 bp[2] End 20,826,117 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • oxidoreductase activity • NADP-retinol dehydrogenase activity • estradiol 17-beta-dehydrogenase activity • retinol dehydrogenase activity Cellular component • cytoplasm • integral component of membrane • integral component of plasma membrane • membrane Biological process • estrogen biosynthetic process • retinol metabolic process • oxidation-reduction process • response to stimulus • visual perception • steroid biosynthetic process Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	50700	235033
Ensembl	ENSG00000080511	ENSMUSG00000053773
UniProt	Q9NYR8	D3Z6W3
RefSeq (mRNA)	NM_015725	NM_001030290
RefSeq (protein)	NP_056540	NP_001025461
Location (UCSC)	Chr 19: 10.01 – 10.02 Mb	Chr 9: 20.82 – 20.83 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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][7]

References

1. GRCh38: Ensembl release 89: ENSG00000080511 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000053773 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. 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.
6. 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.
7. "Entrez Gene: RDH8 retinol dehydrogenase 8 (all-trans)".

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. 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. 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.
• 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.