FAM173B
FAM173B: A Gene Linked to Neurodevelopmental Disorders
Description
FAM173B (Family with Sequence Similarity 173, Member B) is a gene that encodes a protein involved in important cellular processes, particularly in the development and function of the nervous system. Mutations in this gene have been associated with various neurodevelopmental disorders.
Associated Diseases
Mutations in FAM173B have been linked to the following neurodevelopmental disorders:
- Intellectual disability
- Autism spectrum disorder (ASD)
- Schizophrenia
- Epilepsy
- Microcephaly (small head size)
Individuals with these disorders often exhibit difficulties with cognition, language, social interaction, and behavior.
Did you Know ?
A study published in the journal "Psychiatric Genetics" found that mutations in FAM173B are present in approximately 1.5% of individuals with ASD. This suggests that FAM173B may play a significant role in the development of this disorder.
