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Description for Protein DCX

doublecortin
11 total interacting proteins; 8 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene encodes a member of the doublecortin family. The protein encoded by this gene is a cytoplasmic protein and contains two doublecortin domains, which bind microtubules. In the developing cortex, cortical neurons must migrate over long distances to reach the site of their final differentiation. The encoded protein appears to direct neuronal migration by regulating the organization and stability of microtubules. In addition, the encoded protein interacts with LIS1, the regulatory gamma subunit of platelet activating factor acetylhydrolase, and this interaction is important to proper microtubule function in the developing cortex. Mutations in this gene cause abnormal migration of neurons during development and disrupt the layering of the cortex, leading to epilepsy, mental retardation, subcortical band heterotopia ("double cortex" syndrome) in females and lissencephaly ("smooth brain" syndrome) in males. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • DCX: Domain in the Doublecortin (DCX) gene product
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    None Available
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    DBCN; Lissencephalin-X; Lis-X; Doublin; SCLH; XLIS; DC; Doublecortin isoform a; Doublecortin isoform c; Doublecortin isoform b
    Approved Symbol:
    DCX
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 31
    Human (de-) phosphorylation sites: 31; 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:

  • Lissencephaly, X-linked(Pd);
  • Subcortical laminar heterotopia, X-linked(Pd);
  • Subcortical laminar heterotopia/pachygyria, X-linked(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 4 : 0
  • Isoform 3 : 0
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 02127 Entrez Gene ID: 1641 OMIM ID: 300121 Swissprot Accession: O43602;