PCDHA4

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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.