FAM205A
Title: FAM205A: A Gene Linked to Autism Spectrum Disorder (ASD) and Other Neurodevelopmental Conditions
Description:
FAM205A is a gene located on chromosome 5q15 in humans. It encodes a protein that belongs to the conserved FAM205 family. FAM205A is involved in the regulation of membrane trafficking and cellular adhesion, which are critical processes for brain development and function. Mutations in the FAM205A gene have been associated with an increased risk of autism spectrum disorder (ASD) and other neurodevelopmental conditions.
Associated Diseases:
FAM205A mutations are primarily linked to ASD, a complex neurodevelopmental disorder characterized by impaired social interaction, communication difficulties, and repetitive behaviors. Other neurodevelopmental conditions associated with FAM205A mutations include:
- Intellectual disability
- Developmental delay
- Attention deficit hyperactivity disorder (ADHD)
- Epilepsy
- Microcephaly (abnormally small head size)
Did you Know ?
Approximately 1% of individuals with ASD have been found to carry mutations in the FAM205A gene.
