RDH8
From Wikipedia, the free encyclopedia
Retinol dehydrogenase 8 (all-trans)
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Identifiers | ||||||||||||||
Symbol(s) | RDH8; PRRDH | |||||||||||||
External IDs | OMIM: 608575 MGI: 2685028 HomoloGene: 41062 | |||||||||||||
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RNA expression pattern | ||||||||||||||
Orthologs | ||||||||||||||
Human | Mouse | |||||||||||||
Entrez | 50700 | 235033 | ||||||||||||
Ensembl | ENSG00000080511 | ENSMUSG00000053773 | ||||||||||||
Refseq | NM_015725 (mRNA) NP_056540 (protein) |
NM_001030290 (mRNA) NP_001025461 (protein) |
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Location | Chr 19: 9.98 - 9.99 Mb | Chr 9: 20.57 - 20.58 Mb | ||||||||||||
Pubmed search | [1] | [2] |
Retinol dehydrogenase 8 (all-trans), also known as RDH8, is a human gene.[1]
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][1]
[edit] References
[edit] Further reading
- Rando RR (2001). "The biochemistry of the visual cycle.". Chem. Rev. 101 (7): 1881-96. 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): 18822-32. doi: . 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): 639-46. doi: . 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): 2623-32. doi: . 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): 40-5. doi: . 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): 45537-46. doi: . PMID 12226107.
- Rattner A, Smallwood PM, Nathans J (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): 11034-43. PMID 10753906.
- 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): 1325-33. PMID 9667000.