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Description for Protein DHCR7

7-dehydrocholesterol reductase
4 total interacting proteins; 3 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 2/0)
(membrane: 1; platelet: 2)
Summary:
This gene encodes an enzyme that removes the C(7-8) double bond in the B ring of sterols and catalyzes the conversion of 7-dehydrocholesterol to cholesterol. This gene is ubiquitously expressed and its transmembrane protein localizes to the endoplasmic reticulum membrane and nuclear outer membrane. Mutations in this gene cause Smith-Lemli-Opitz syndrome (SLOS); a syndrome that is metabolically characterized by reduced serum cholesterol levels and elevated serum 7-dehydrocholesterol levels and phenotypically characterized by mental retardation, facial dysmorphism, syndactyly of second and third toes, and holoprosencephaly in severe cases to minimal physical abnormalities and near-normal intelligence in mild cases. Alternative splicing results in multiple transcript variants that encode the same protein. (PubMed Links)
Domains and Motifs:
  • TM: Transmembrane domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    1.3.1.21
    KEGG - Orthology:
    K00213
    KEGG - Pathway(s):
    hsa00100; hsa01100
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Sterol delta-7-reductase; 7-DHC reductase
    Approved Symbol:
    DHCR7
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 3
    Human (de-) phosphorylation sites: 3; 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):

  • NADH(db)

    Associated Genetic Diseases:

  • Smith-Lemli-Opitz syndrome(Pd);
  • Smith-Lemli-Opitz syndrome, mild(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 6
    • Additional Identifiers:

    HPRD: 04174 Entrez Gene ID: 1717 OMIM ID: 602858 Swissprot Accession: Q9UBM7;