RDH12

From Wikipedia, the free encyclopedia


Retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
Identifiers
Symbol(s) RDH12; FLJ30273; LCA3
External IDs OMIM: 608830 MGI1925224 HomoloGene59018
RNA expression pattern

More reference expression data

Orthologs
Human Mouse
Entrez 145226 77974
Ensembl ENSG00000139988 ENSMUSG00000021123
Uniprot Q96NR8 Q8BYK4
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

[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.