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Retinol Dehydrogenase 12 (RDH12)

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LCA3; SDR7C2; LCA13; Short Chain Dehydrogenase/Reductase Family 7C,Member 2; All-trans and 9-cis retinol dehydrogenase

Retinol Dehydrogenase 12 (RDH12)
CCC H238
HGNC 19977
MGI 1925224
PubMed 16269441
RGD 1310462
UniProt Q96NR8
Wiki RDH12
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.The deduced 316-amino acid RDH12 protein has a calculated molecular mass of about 35 kD and shares 79% similarity with RDH11. RDH12 contains 2 motifs highly conserved among short chain alcohol dehydrogenases/reductases, the cofactor-binding site and catalytic residues. EST database analysis indicated that RDH12 is expressed predominantly in eye and also in kidney, brain, skeletal muscle, and stomach. In situ hybridization to monkey and mouse retina indicated Rdh12 is expressed at the base of photoreceptor inner segments.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Retinol Dehydrogenase 12 (RDH12) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Retinol Dehydrogenase 12 (RDH12) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Retinol Dehydrogenase 12 (RDH12) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Retinol Dehydrogenase 12 (RDH12) CLIA Kit Customized Service Offer
n/a ELISA Kit for Retinol Dehydrogenase 12 (RDH12) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Retinol Dehydrogenase 12 (RDH12) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Retinol Dehydrogenase 12 (RDH12) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Retinol Dehydrogenase 12 (RDH12) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Retinol Dehydrogenase 12 (RDH12) CLIA Kit Customized Service Offer
n/a ELISA Kit for Retinol Dehydrogenase 12 (RDH12) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Retinol Dehydrogenase 12 (RDH12) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Retinol Dehydrogenase 12 (RDH12) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Retinol Dehydrogenase 12 (RDH12) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Retinol Dehydrogenase 12 (RDH12) CLIA Kit Customized Service Offer
n/a ELISA Kit for Retinol Dehydrogenase 12 (RDH12) ELISA Kit Customized Service Offer
  1. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  2. "The DNA sequence and analysis of human chromosome 14." Nature 421:601-607(2003) [PubMed] [Europe PMC] [Abstract]
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  4. "Dual-substrate specificity short chain retinol dehydrogenases from the vertebrate retina."J. Biol. Chem. 277:45537-45546(2002) [PubMed] [Europe PMC] [Abstract]
  5. "Retinal dehydrogenase 12 (RDH12) mutations in Leber congenital amaurosis."Am. J. Hum. Genet. 75:639-646(2004) [PubMed] [Europe PMC] [Abstract]
  6. "Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy."Nat. Genet. 36:850-854(2004) [PubMed] [Europe PMC] [Abstract]
  7. "Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle." Hum. Mol. Genet. 14:3865-3875(2005) [PubMed] [Europe PMC] [Abstract]
  8. "Genetic heterogeneity in two consanguineous families segregating early onset retinal degeneration: the pitfalls of homozygosity mapping."Am. J. Med. Genet. A 149:650-656(2009) [PubMed] [Europe PMC] [Abstract]
  9. "Molecular characterization of retinitis pigmentosa in Saudi Arabia."Mol. Vis. 15:2464-2469(2009) [PubMed] [Europe PMC] [Abstract]
  10. "Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis."PLoS ONE 6:E19458-E19458(2011) [PubMed] [Europe PMC] [Abstract]