DCST2
Description
DCST2, also known as Doublecortin and CaMK-Like-1 (DCL1), is a protein that plays a vital role in neuronal development and synaptic plasticity. It is highly expressed in the brain during embryonic and postnatal development, where it is essential for the formation and maturation of neural circuits. DCST2 is a member of the doublecortin family of proteins, which are characterized by their unique N-terminal domain containing a doublecortin repeat (DCR).
DCST2 is involved in several cellular processes that are critical for neuronal development, including microtubule dynamics, cell migration, and axon guidance. It interacts with various proteins that regulate these processes, including the microtubule-associated protein tau and the Rho GTPase Rac1.
Associated Diseases
Mutations in the DCST2 gene have been linked to several neurological disorders, including:
- X-linked lissencephaly (XLIS): A severe brain malformation characterized by a smooth brain surface and mental retardation.
- Miller-Dieker syndrome (MDS): A rare genetic disorder that affects the development of the brain and spinal cord, resulting in intellectual disability, seizures, and facial abnormalities.
- Microcephaly: A condition characterized by an abnormally small head and brain.
- Autism spectrum disorder (ASD): A neurodevelopmental disorder that affects social and communication skills.
Did you Know ?
- Mutations in the DCST2 gene are estimated to account for approximately 10% of cases of XLIS, making it the most common genetic cause of this disorder.
