Doublecortin (DCX) has a molecular weight of about 45kDa. The protein contains two domains, each about 90 amino acids long, which are believed to function in binding to microtubules, a C-terminal serine and proline rich region which may become phosphorylated in vivo. DCX is expressed very early in neuronal development, as neuroblasts become post-mitotic, but is lost as neurons mature. Developing neurons start to lose DCX expression about the time that they begin to express NeuN, a neuronal specific RNA binding protein characteristic of more mature neurons. Antibodies to DCX are used to identify stem cells in sections and in tissue culture, and to see if neurogenesis is taking place.
Defects in DCX are the cause of lissencephaly X-linked type 1 (LISX1) [MIM:300067]; also called X-LIS or LIS. LISX1 is a classic lissencephaly characterized by mental retardation and seizures that are more severe in male patients.
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