FAM214A
Understanding FAM214A: A Gene Linked to Neurodevelopmental Disorders
Introduction
FAM214A is a gene that encodes a protein called family with sequence similarity 214, member A. This protein plays a crucial role in the development and function of the nervous system. Mutations in the FAM214A gene have been linked to several neurodevelopmental disorders, including intellectual disability, autism spectrum disorder (ASD), and epilepsy.
Description
The FAM214A gene is located on the X chromosome. It consists of 13 exons and spans over 100,000 base pairs. The FAM214A protein is a 481-amino acid polypeptide that contains several functional domains, including an N-terminal coiled-coil domain, a central proline-rich region, and a C-terminal transmembrane domain.
Associated Diseases
Mutations in the FAM214A gene have been associated with various neurodevelopmental disorders, including:
- Intellectual Disability: FAM214A mutations account for approximately 2-3% of all cases of intellectual disability. Affected individuals may have difficulty with cognitive and adaptive functioning, such as learning, memory, problem-solving, and social skills.
- Autism Spectrum Disorder (ASD): FAM214A mutations have also been implicated in the development of ASD. Affected individuals may exhibit repetitive behaviors, impaired social communication, and restricted interests.
- Epilepsy: Mutations in FAM214A can increase the susceptibility to seizures. Approximately 10-15% of individuals with FAM214A mutations develop epilepsy.
Did you Know ?
Approximately 1 in every 1,000 males carry a mutation in the FAM214A gene. This makes it one of the most common X-linked genes associated with neurodevelopmental disorders.
