DCST1
Description
DCST1 is a protein that plays a crucial role in cellular processes related to cell division, differentiation, and DNA repair. It belongs to the family of doublecortin and doublecortin-like kinase 1 (DCLK1) proteins, which are characterized by their conserved doublecortin domain. DCST1 is primarily expressed in the developing brain and continues to be expressed in specific regions of the adult brain, particularly in areas involved in learning and memory.
Associated Diseases
Mutations in the DCST1 gene have been linked to several neurological disorders, including:
- Microlissencephaly with microcephaly and developmental delay: This is a rare genetic disorder characterized by a small brain (microcephaly) and microcephaly, along with intellectual disability and delayed development.
- Lissencephaly: This is a severe brain malformation in which the cerebral cortex (the outer layer of the brain) is smooth and lacks the normal folds and grooves. It can lead to severe developmental delays and seizures.
- Autism spectrum disorder (ASD): DCST1 has been implicated in the development of ASD, although the exact role it plays is still being investigated.
- Schizophrenia: Research suggests that mutations in DCST1 may increase the risk of developing schizophrenia, a complex psychiatric disorder characterized by delusions, hallucinations, and disorganized thinking.
Did you Know ?
- Approximately 1 in 100,000 people worldwide are affected by microlissencephaly with microcephaly and developmental delay, caused by DCST1 mutations.
