DCX

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, cognitive disability, 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, Sep 2010]

Description

Doublecortin

Tissue specificity

Tissue enhanced (brain, endometrium , retina)

Subcell location

Cytosol

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

X (111293779 - 111412429)

Ensembl ID

ENSG00000077279  (ver. 103.38)

Orthologs

Mouse Dcx: ENSMUSG00000031285

UniProt

O43602

neXtProt

NX_O43602

Human splice variants
Mouse splice variants

Protein structure