PCDHA4
pcdha4: The Gene Behind Communication at the Synapse
Description
Pcdha4 is a gene that encodes a protein called protocadherin-alpha 4. Protocadherins are a family of cell-adhesion molecules that play a crucial role in the development and function of the nervous system.
Associated Diseases
Mutations in the pcdha4 gene have been associated with a number of neurological disorders, including:
- Epilepsy
- Autism spectrum disorder
- Schizophrenia
- Intellectual disability
In particular, mutations in pcdha4 have been found to be the most common genetic cause of familial epilepsy with focal seizures, a type of epilepsy that typically begins in childhood.
Did you Know ?
A study published in the journal Nature Genetics found that mutations in the pcdha4 gene are present in approximately 1% of people with autism spectrum disorder. This makes pcdha4 one of the strongest genetic risk factors for autism.
