Relevance to Autism

Rare mutations in the DCX gene have been identified in individuals with a form of X-linked lissencephaly (LISX1; OMIM 300067) (des Portes et al., 1998; Gleeson et al., 1998; Pilz et al., 1998). However, Vourc'h et al., 2002 identified no rare mutations in the coding region of the DCX gene in a cohort of 59 patients with autism.

Molecular Function

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.

External Links

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