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Description for Protein RDH12

retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
No Interacting Proteins
Icon Book Platelet Evidence (proteome studies/others : 1/0)
(membrane: 1)
Summary:
The protein encoded by this gene is an NADPH-dependent retinal reductase whose highest activity is toward 9-cis and all-trans-retinol. The encoded enzyme also plays a role in the metabolism of short-chain aldehydes but does not exhibit steroid dehydrogenase activity. Defects in this gene are a cause of Leber congenital amaurosis type 3 (LCA3). [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • SP: Signal Peptide
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    1.1.1.-
    KEGG - Orthology:
    K11153
    KEGG - Pathway(s):
    hsa00830; hsa01100
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    LCA3; FLJ30273; Retinol dehydrogenase, all-trans and 9-cis
    Approved Symbol:
    RDH12
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 1
    Human (de-) phosphorylation sites: 1; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

  • Vitamin A(db)

    Associated Genetic Diseases:

  • Leber congenital amaurosis, type III(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 10585 Entrez Gene ID: 145226 OMIM ID: 608830 Swissprot Accession: Q96NR8;