SPANXN4
spanxn4 Gene: Unveiling the Complexities of Neurodevelopment
Description
The spanxin4 gene, located on chromosome 10q26.13, encodes a protein called spanxin-4. This protein is primarily expressed in the developing nervous system, particularly in the cerebral cortex and hippocampus, where it plays a crucial role in neuronal migration and differentiation.
Associated Diseases
Mutations in the spanxn4 gene have been linked to several neurological disorders, including:
- Microcephaly: A condition characterized by an abnormally small head and reduced brain size.
- Intellectual disability: A broad term for deficits in cognitive and adaptive functioning.
- Epilepsy: A neurological disorder characterized by recurrent seizures.
Did you Know ?
Approximately 1 in every 100,000 individuals is affected by microcephaly caused by spanxn4 mutations.
