RDH12

RDH12

Identifiers

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]
Band	14q24.1	End	67,734,451 bp^[1]

Gene location (Mouse)

Chr.	Chromosome 12 (mouse)^[2]

Band	12\|12 C3	Start	79,255,688 bp^[2]
Band	12\|12 C3	End	79,269,439 bp^[2]

RNA expression pattern

Bgee

Human

Mouse (ortholog)

Top expressed in

vulva

skin of abdomen

gums

gallbladder

human penis

corpus epididymis

vagina

nipple

right adrenal gland

body of stomach

Top expressed in

esophagus

retinal pigment epithelium

secondary oocyte

skin of abdomen

skin of back

epidermis

hair follicle

blood

yolk sac

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]

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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, 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.
^ 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.
^ ^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. 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.

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This page was last edited on 9 May 2024, at 03:12

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