FAM153C
fam153c: A Gene Associated with Autism Spectrum Disorder and Epilepsy
Introduction
fam153c is a gene located on chromosome 15q11.2-q13.1. It encodes a protein that plays a role in the development of the nervous system. Mutations in fam153c have been linked to autism spectrum disorder (ASD) and epilepsy.
Description
The fam153c gene is approximately 120 kilobases in length and contains 13 exons. The protein encoded by fam153c has 3,376 amino acids and contains several functional domains, including a leucine zipper domain, a coiled-coil domain, and a zinc finger domain.
Associated Diseases
Mutations in fam153c have been linked to several diseases, including:
- Autism spectrum disorder (ASD): ASD is a neurodevelopmental disorder characterized by social deficits, communication difficulties, and repetitive behaviors. Mutations in fam153c have been identified in approximately 1% of individuals with ASD.
- Epilepsy: Epilepsy is a neurological disorder characterized by recurrent seizures. Mutations in fam153c have been linked to a specific type of epilepsy called focal epilepsy.
Did you Know ?
Studies have shown that mutations in fam153c are more common in individuals with both ASD and epilepsy than in individuals with either disorder alone. This suggests that fam153c may play a role in both the neurological and psychiatric symptoms of these disorders.
