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)
End	67,734,451 bp
Gene location (Mouse)
Chr.	Chromosome 12 (mouse)
End	79,269,439 bp
RNA expression pattern
	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
	; ; ; ;
	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
	145226
	77974
	ENSG00000139988
	ENSMUSG00000021123
	Q96NR8
	Q8BYK4
	NM_152443
	NM_030017; NM_001313971
	NP_689656
	NP_001300900; NP_084293
	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

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000139988 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000021123 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Haeseleer F, Jang GF, Imanishi Y, Driessen CA, Matsumura M, Nelson PS, Palczewski K (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.{{cite journal}}: CS1 maint: unflagged free DOI (link)
^ 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". Chemico-Biological Interactions. 178 (1–3): 94–8. doi:10.1016/j.cbi.2008.10.040. PMC 2896744. PMID 19027726.
^ ^a ^b "Entrez Gene: RDH12 retinol dehydrogenase 12 (all-trans/9-cis/11-cis)".

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. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (help)
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. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (help)
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. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (help)
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. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (help)
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. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (help)
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. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (help)
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. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (help)
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. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (help)
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. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (help)
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 Research. 47 (15): 2055–66. doi:10.1016/j.visres.2007.04.005. PMC 2441904. PMID 17512964. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (help)

This article on a gene on human chromosome 14 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000139988 – Ensembl, May 2017

[refGRCm38Ensembl-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.

[pmid12226107-5] Haeseleer F, Jang GF, Imanishi Y, Driessen CA, Matsumura M, Nelson PS, Palczewski K (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.{{cite journal}}: CS1 maint: unflagged free DOI (link)

[pmid19027726-6] 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". Chemico-Biological Interactions. 178 (1–3): 94–8. doi:10.1016/j.cbi.2008.10.040. PMC 2896744. PMID 19027726.

[entrez-7] "Entrez Gene: RDH12 retinol dehydrogenase 12 (all-trans/9-cis/11-cis)".

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References

Further reading