FAM25C
FAM25C: A Comprehensive Overview
Description
FAM25C, also known as Family with Sequence Similarity 25, Member C, is a protein-coding gene that plays a crucial role in various cellular processes. It encodes a protein that belongs to the FAM25 family, which is characterized by a conserved seven-transmembrane domain architecture. FAM25C is primarily localized to the endoplasmic reticulum (ER), where it functions as an integral membrane protein.
Associated Diseases
Mutations or variations in the FAM25C gene have been linked to several medical conditions, including:
- Epilepsy: FAM25C variants have been implicated in both generalized and focal forms of epilepsy, specifically in children and young adults.
- Intellectual Disability: Intellectual disability associated with epilepsy has also been reported in individuals with FAM25C mutations.
- Autism Spectrum Disorder (ASD): Studies have observed an increased prevalence of FAM25C mutations in individuals with ASD and related neurodevelopmental disorders.
- Neurological Disorders: FAM25C dysfunction has been associated with other neurological disorders, such as cerebral palsy and ataxia.
Did you Know ?
According to a large-scale genome-wide association study involving over 50,000 individuals, a specific variant in the FAM25C gene (rs10975190) has been strongly associated with a 22% increased risk of developing generalized epilepsy.
