A protein (441 aa) that seems to be expressed only in fetal brain, where it is important in neuronal migration. The protein is associated with microtubules and is often used as a marker for newly generated neurons. The gene is on the X chromosome and mutations lead, in males, to lissencephaly with severe mental retardation and epilepsy and in heterozygous females to subcortical laminar heterotopia (SCLH), also known as ‘double cortex’ syndrome, associated with milder mental retardation and epilepsy. A family of doublecortin like proteins (including the retinitis pigmentosum 1 (RP1) gene product and doublecortin-like kinase 1 (Dclk) has been identified, all with doublecortin-like (DCX) domains (usually in tandem). The domain is a microtubule-binding module and is involved in protein–protein interactions. Phylogenetically ancient, with homologues in invertebrates and unicellular organisms.
Subjects: Medicine and Health.