FAM8A1
FAM8A1: A Gene Linked to Neurodevelopmental Disorders
Description
FAM8A1 is a gene that encodes a protein called Family with sequence similarity 8, member A1. This protein is involved in the development and function of the nervous system. Mutations in the FAM8A1 gene have been linked to several neurodevelopmental disorders, including autism spectrum disorder (ASD), intellectual disability, and microcephaly.
Associated Diseases
- Autism spectrum disorder (ASD): ASD is a complex neurodevelopmental disorder characterized by social difficulties, repetitive behaviors, and restricted interests. Mutations in the FAM8A1 gene have been found in some individuals with ASD.
- Intellectual disability: Intellectual disability is a condition characterized by significant limitations in intellectual functioning and adaptive behavior. Mutations in the FAM8A1 gene have been linked to intellectual disability in some individuals.
- Microcephaly: Microcephaly is a condition characterized by an abnormally small head size and developmental delays. Mutations in the FAM8A1 gene have been found in some individuals with microcephaly.
Did you Know ?
Approximately 1 in 250 individuals with ASD have a mutation in the FAM8A1 gene. This makes FAM8A1 one of the most common genetic causes of ASD.
