VCX2
VCX2 Gene: Unraveling the Mystery of Brain Development and Neurological Disorders
Description
The VCX2 gene, located on chromosome 12q24.31, plays a crucial role in brain development and function. It encodes a protein called vaccinia-related kinase 2 (VRK2), which is an essential component of the cell cycle and is involved in various cellular processes.
Associated Diseases
Mutations in the VCX2 gene have been linked to a spectrum of neurological disorders, including:
- Microcephaly: A condition characterized by an unusually small head circumference.
- Intellectual disability: Impaired cognitive abilities such as problem-solving, reasoning, and learning.
- Autism spectrum disorder (ASD): A neurodevelopmental condition characterized by social and communication difficulties.
- Epilepsy: A neurological disorder that causes recurrent seizures.
- Schizophrenia: A severe mental illness that affects thinking, emotions, and behavior.
Did you Know ?
Approximately 1 in every 10,000 individuals worldwide is affected by a mutation in the VCX2 gene, highlighting its significant role in human health.