FAM103A1
Title: FAM103A1: An Essential Gene for Brain Development and Function
Description:
FAM103A1 (family with sequence similarity 103, member A1) is a critical gene involved in the formation and functioning of the human brain. It plays a crucial role in the development of neurons, the primary cells responsible for transmitting signals in the brain. Mutations in the FAM103A1 gene have been associated with a range of neurodevelopmental disorders, including autism spectrum disorder (ASD) and intellectual disability.
Associated Diseases:
- Autism spectrum disorder (ASD)
- Intellectual disability
- Developmental delay
- Microcephaly (abnormally small head size)
- Epilepsy
Did you Know ?
Approximately 1% of individuals with ASD have a mutation in the FAM103A1 gene, making it one of the most commonly implicated genetic factors in this disorder.