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Description for Protein DHCR24

24-dehydrocholesterol reductase
2 total interacting proteins;
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene encodes a flavin adenine dinucleotide (FAD)-dependent oxidoreductase which catalyzes the reduction of the delta-24 double bond of sterol intermediates during cholesterol biosynthesis. The protein contains a leader sequence that directs it to the endoplasmic reticulum membrane. Missense mutations in this gene have been associated with desmosterolosis. Also, reduced expression of the gene occurs in the temporal cortex of Alzheimer disease patients and overexpression has been observed in adrenal gland cancer cells. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • SP: Signal Peptide
  • TM: Transmembrane domain

  • Gene Ontology:
    Gene Ontology Annotations

    KEGG - Enzyme ID(s):
    1.3.1.72
    KEGG - Orthology:
    K09828
    KEGG - Pathway(s):
    hsa00100; hsa01100
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Selective AD indicator 1; Seladin 1; 3 beta hydroxysterol delta 24 reductase; Diminuto/dwarf1 homolog
    Approved Symbol:
    DHCR24
    (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):

    None Available


    Associated Genetic Diseases:

  • Desmosterolosis(Pd)
  • Predicted Transmembrane Domains:
  • Isoform 1 : 2
  • Additional Identifiers:

    HPRD: 05916 Entrez Gene ID: 1718 OMIM ID: 606418 Swissprot Accession: Q15392