Scientific The Protein Pages

Retinol Dehydrogenase 12
(RDH12)

Editor's
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To see the reference for the human data click on the data

Recent update from: 24.04.2005

Description

Retinol Dehydrogenase 12 is a member of the short-chain reductase/dehydrogenase family of enzymes oxydizing the all-trans and 11-cis form of the visual chromophore from the alcohol (retinol), to the aldehyde (retinal) form. The enzyme exerts equal activity on catalyzing the reverse (reducing) reaction. RDH12 is expressed in photoreceptor inner segments

GENE DATA

Exons: 7

Markers / RFLPs: SNPs

Transcripts:

Regulatory elements:

Primers: complete exons

Chromosome
Involvement in Retinal Degenerations:

click here to see a compilation of

CLICK

several Mutations found to underlie

Assignment: 14q24.1

PROTEIN DATA
Subunits: 1 Amino acids: 316 Mr/ Weight: 35 kDa
Modifications:
Cofactors: NADPH Functional Domains:

SDR-specific motifs
  • Cofactor-binding site (GXXXGXG)
  • catalytic residues (YXXXK)

PROTEIN DATA

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Protein Subtype Locus Species EC-No. Swissprot PIR Prosite
Retinol Dehydrogenase all-trans/11-cis-RDH RDH12 Homo sapiens EC 1.1.1.- Q96NR8
PDOC00060
Retinol Dehydrogenase all-trans/11-cis-RDH rdh12 Rattus norvegicus EC 1.1.1.-


Retinol Dehydrogenase all-trans/11-cis-RDH rdh12 Bos taurus EC 1.1.1.- P59837

Retinol Dehydrogenase all-trans/11-cis-RDH Rdh12 Mus musculus EC 1.1.1.- Q8BYK4

Retinol Dehydrogenase all-trans/11-cis-RDH rdh12 Canis familiaris EC 1.1.1.-


Retinol Dehydrogenase all-trans/11-cis-RDH Rdh12 Pan troglodytes EC 1.1.1.-


Retinol Dehydrogenase all-trans/11-cis-RDH rdh12 Danio rerio EC 1.1.1.-
Q6DG78

GENE DATA

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Gene Subtype Locus Species Genbank [gi:] Unigene Entrez Gene OMIM
Retinol Dehydrogenase all-trans/11-cis-RDH RDH12 Homo sapiens 19343614
22748934
51460708
 Hs.415322 145226 608830
Retinol Dehydrogenase all-trans/11-cis-RDH rdh12 Rattus norvegicus 62650916


Retinol Dehydrogenase all-trans/11-cis-RDH rdh12 Bos taurus 61849889


Retinol Dehydrogenase all-trans/11-cis-RDH Rdh12 Mus musculus 58037512
45595649
16740648
 Mm.274373 77974
Retinol Dehydrogenase all-trans/11-cis-RDH rdh12 Canis familiaris 57090666


Retinol Dehydrogenase all-trans/11-cis-RDH Rdh12 Pan troglodytes 55640942


Retinol Dehydrogenase all-trans/11-cis-RDH rdh12 Danio rerio 50339717
49900520
 Dr.32031 436597

GENE LOCUS DATA

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Gene Subtype Locus Species Genome Database Mouse Genom Database
Retinol Dehydrogenase all-trans/11-cis-RDH Rdh12 Mus musculus
Rdh12

References:
  1. Haeseleer,F., Jang,G.F., Imanishi,Y., Driessen,C.A., Matsumura,M., Nelson,P.S., and Palczewski,K. Dual-substrate specificity short chain retinol dehydrogenases from the vertebrate retina. 2002; J.Biol.Chem. 277: 45537-45546. Link Goto Top
  2. Janecke,A.R., Thompson,D.A., Utermann,G., Becker,C., Hubner,C.A., Schmid,E., McHenry,C.L., Nair,A.R., Ruschendorf,F., Heckenlively,J., Wissinger,B., Nurnberg,P., and Gal,A. Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy. 2004; Nat.Genet. 36: 850-854. Link Goto Top
  3. Perrault,I., Hanein,S., Gerber,S., Barbet,F., Ducroq,D., Dollfus,H., Hamel,C., Dufier,J.L., Munnich,A., Kaplan,J., and Rozet,J.M. Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis. 2004; Am.J.Hum.Genet. 75: 639-646. Link Goto Top

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Contact the editor 		This site is maintained and edited by
Dr. rer. medic. Markus Preising, Dipl.Biol.
Molecular Genetics Laboratory
Department of Paediatric Ophthalmology, Strabismology and Ophthalmogenetics
University of Regensburg
Head: Prof. Dr. med. Birgit Lorenz