FAM175A
FAM175A: A Vital Gene in Neurodevelopmental Disorders
Description
FAM175A (family with sequence similarity 175, member A) is a gene located on the X chromosome. It encodes a protein called FAM175A, which plays a crucial role in the development and function of the nervous system. FAM175A is involved in the regulation of synaptic function, neuronal growth, and synaptic plasticity, which are essential processes for learning, memory, and cognition.
Associated Diseases
Mutations in the FAM175A gene have been linked to a range of neurodevelopmental disorders, including:
- Intellectual disability
- Autism spectrum disorder (ASD)
- Schizophrenia
- Epilepsy
- Microcephaly
- Macrocephaly
Did you Know ?
Research has shown that mutations in FAM175A are present in approximately 1% of individuals with autism spectrum disorder. This makes FAM175A one of the strongest genetic risk factors for ASD.
