RDH12

From Wikipedia, the free encyclopedia

Retinol dehydrogenase 12 (all-trans/9-cis/11-cis)

Identifiers

RDH12; FLJ30273; LCA3

External IDs

OMIM: 608830 MGI: 1925224 HomoloGene: 59018

Gene ontology
Molecular Function:	• retinol dehydrogenase activity • oxidoreductase activity
Cellular Component:	• intracellular
Biological Process:	• metabolic process • retinol metabolic process • photoreceptor cell maintenance • response to stimulus

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_152443 (mRNA)
NP_689656 (protein)

NM_030017 (mRNA)
NP_084293 (protein)

Location

Chr 14: 67.26 - 67.27 Mb

Chr 12: 80.13 - 80.14 Mb

Pubmed search

[1]

[2]

Retinol dehydrogenase 12 (all-trans/9-cis/11-cis), also known as RDH12, is a human gene.^[1]

Retinoids are indispensable light-sensitive elements of vision and also serve as essential modulators of cellular differentiation and proliferation in diverse cell types. RDH12 belongs to a family of dual-specificity retinol dehydrogenases that metabolize both all-trans- and cis-retinols (Haeseleer et al., 2002).[supplied by OMIM]^[1]

[edit] References

^ ^a ^b Entrez Gene: RDH12 retinol dehydrogenase 12 (all-trans/9-cis/11-cis).

[edit] Further reading

Stockton DW, Lewis RA, Abboud EB, et al. (1998). "A novel locus for Leber congenital amaurosis on chromosome 14q24.". Hum. Genet. 103 (3): 328–33. PMID 9799089.
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:10.1074/jbc.M208882200. PMID 12226107.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.
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:10.1038/ng1285. PMID 14702039.
Janecke AR, Thompson DA, Utermann G, et al. (2004). "Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy.". Nat. Genet. 36 (8): 850–4. doi:10.1038/ng1394. PMID 15258582.
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:10.1086/424889. PMID 15322982.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.
Belyaeva OV, Korkina OV, Stetsenko AV, et al. (2005). "Biochemical properties of purified human retinol dehydrogenase 12 (RDH12): catalytic efficiency toward retinoids and C9 aldehydes and effects of cellular retinol-binding protein type I (CRBPI) and cellular retinaldehyde-binding protein (CRALBP) on the oxidation and reduction of retinoids.". Biochemistry 44 (18): 7035–47. doi:10.1021/bi050226k. PMID 15865448.
Jacobson SG, Cideciyan AV, Aleman TS, et al. (2007). "RDH12 and RPE65, visual cycle genes causing leber congenital amaurosis, differ in disease expression.". Invest. Ophthalmol. Vis. Sci. 48 (1): 332–8. doi:10.1167/iovs.06-0599. PMID 17197551.
Schuster A, Janecke AR, Wilke R, et al. (2007). "The phenotype of early-onset retinal degeneration in persons with RDH12 mutations.". Invest. Ophthalmol. Vis. Sci. 48 (4): 1824–31. doi:10.1167/iovs.06-0628. PMID 17389517.
Keller B, Adamski J (2007). "RDH12, a retinol dehydrogenase causing Leber's congenital amaurosis, is also involved in steroid metabolism.". J. Steroid Biochem. Mol. Biol. 104 (3-5): 190–4. doi:10.1016/j.jsbmb.2007.03.015. PMID 17512723.
Sun W, Gerth C, Maeda A, et al. (2007). "Novel RDH12 mutations associated with Leber congenital amaurosis and cone-rod dystrophy: biochemical and clinical evaluations.". Vision Res. 47 (15): 2055–66. doi:10.1016/j.visres.2007.04.005. PMID 17512964.