FAM178A
FAM178A: A Gene Linked to Neurodevelopmental Disorders
Description
FAM178A (family with sequence similarity 178, member A) is a gene located on chromosome 17q25.3. It encodes a protein called FAM178A, which is involved in the development and maintenance of the nervous system. Mutations in FAM178A can lead to a range of neurodevelopmental disorders, including intellectual disability, autism, and schizophrenia.
Associated Diseases
Mutations in FAM178A have been linked to the following diseases:
- Intellectual disability (ID)
- Autism spectrum disorder (ASD)
- Schizophrenia
- Attention-deficit hyperactivity disorder (ADHD)
- Epilepsy
- Cerebral palsy
- Microcephaly (small head size)
- Macrocephaly (large head size)
Did you Know ?
Approximately 1 in 20,000 people worldwide are affected by FAM178A-related neurodevelopmental disorders.
