RDH8

RDH8
Identifiers
AliasesRDH8, PRRDH, SDR28C2, retinol dehydrogenase 8 (all-trans), retinol dehydrogenase 8
External IDsMGI: 2685028 HomoloGene: 41062 GeneCards: RDH8
Gene location (Human)
Chr.Chromosome 19 (human)[1]
Band19p13.2Start10,013,249 bp[1]
End10,022,279 bp[1]
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
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 MbChr 9: 20.82 – 20.83 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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 (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. 1 2 3 GRCh38: Ensembl release 89: ENSG00000080511 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000053773 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:".
  4. ↑ "Mouse PubMed Reference:".
  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. 1 2 "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.


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