RDH12

RDH12
Identifiers
Aliases	RDH12 , LCA13, LCA3, RP53, SDR7C2, retinol dehydrogenase 12 (all-trans/9-cis/11-cis), retinol dehydrogenase 12
External IDs	OMIM: 608830; MGI: 1925224; HomoloGene: 110830; GeneCards: RDH12; OMA:RDH12 - orthologs
Gene location (Human) Chr. Chromosome 14 (human) [1] Band 14q24.1 Start 67,701,886 bp [1] End 67,734,451 bp [1]
Gene location (Mouse) Chr. Chromosome 12 (mouse) [2] Band 12|12 C3 Start 79,255,688 bp [2] End 79,269,439 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in skin of arm skin of leg vulva skin of abdomen skin of thigh gums gingival epithelium gallbladder human penis skin of hip Top expressed in neural layer of retina granulocyte esophagus retinal pigment epithelium lip epithelium of lens skin of external ear secondary oocyte skin of abdomen skin of back More reference expression data BioGPS More reference expression data
Gene ontology Molecular function NAD-retinol dehydrogenase activity oxidoreductase activity protein binding NADP-retinol dehydrogenase activity Cellular component intracellular anatomical structure photoreceptor inner segment membrane photoreceptor inner segment endoplasmic reticulum endoplasmic reticulum membrane membrane Biological process photoreceptor cell maintenance visual perception retinoid metabolic process retinol metabolic process response to stimulus cellular detoxification of aldehyde Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 145226 77974 Ensembl ENSG00000139988 ENSMUSG00000021123 UniProt Q96NR8 Q8BYK4 RefSeq (mRNA) NM_152443 NM_030017 NM_001313971 RefSeq (protein) NP_689656 NP_001300900 NP_084293 Location (UCSC) Chr 14: 67.7 – 67.73 Mb Chr 12: 79.26 – 79.27 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Retinol dehydrogenase 12 is an enzyme that in humans is encoded by the RDH12 gene. ^{[5] [6] [7]}

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] ^[7]

References

1. GRCh38: Ensembl release 89: ENSG00000139988 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000021123 – 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. Haeseleer F, Jang GF, Imanishi Y, et al. (Nov 2002). "Dual-substrate Specificity Short Chain Retinol Dehydrogenases from the Vertebrate Retina". Journal of Biological Chemistry . 277 (47): 45537–46. doi: 10.1074/jbc.M208882200 . PMC   1435693 . PMID   12226107.
6. Persson B, Kallberg Y, Bray JE, et al. (Feb 2009). "The SDR (Short-Chain Dehydrogenase/Reductase and Related Enzymes) Nomenclature Initiative". Chemico-Biological Interactions . 178 (1–3): 94–8. Bibcode:2009CBI...178...94P. doi:10.1016/j.cbi.2008.10.040. PMC   2896744 . PMID   19027726.
7. "Entrez Gene: RDH12 retinol dehydrogenase 12 (all-trans/9-cis/11-cis)".

Further reading

• Stockton DW, Lewis RA, Abboud EB, et al. (1998). "A novel locus for Leber congenital amaurosis on chromosome 14q24". Human Genetics . 103 (3): 328–33. doi:10.1007/s004390050825. PMID   9799089. S2CID   13413372.
• 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". Proceedings of the National Academy of Sciences of the United States of America . 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nature Genetics . 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. S2CID   11758794.
• Perrault I, Hanein S, Gerber S, et al. (2004). "Retinal Dehydrogenase 12 (RDH12) Mutations in Leber Congenital Amaurosis". American Journal of Human Genetics . 75 (4): 639–46. doi:10.1086/424889. PMC   1182050 . 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 Research . 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC   528928 . 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. PMC   2679700 . 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". Investigative Ophthalmology & Visual Science . 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. S2CID   22890472.
• 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 Research . 47 (15): 2055–66. doi:10.1016/j.visres.2007.04.005. PMC   2441904 . PMID   17512964.