FAM129A
FAM129A: A Pivotal Gene in Neurodevelopmental Disorders
Description
FAM129A (Family with Sequence Similarity 129 Member A) is a gene that encodes a protein of the same name. This protein is involved in a wide range of cellular processes, including DNA repair, chromosome segregation, and cell cycle regulation. Mutations in the FAM129A gene have been linked to several neurodevelopmental disorders, including intellectual disability, autism spectrum disorder, and schizophrenia.
Associated Diseases
- Intellectual Disability: FAM129A mutations are among the most common genetic causes of intellectual disability, accounting for approximately 1% of cases. Intellectual disability is characterized by significant limitations in intellectual functioning (IQ below 70) and difficulties with daily living skills.
- Autism Spectrum Disorder: FAM129A mutations are found in a subset of individuals with autism spectrum disorder (ASD). ASD is a neurodevelopmental condition characterized by social and communication difficulties, as well as repetitive behaviors and restricted interests.
- Schizophrenia: FAM129A mutations have also been linked to schizophrenia, a severe mental illness characterized by delusions, hallucinations, and disorganized thinking.
Did you Know ?
Recent studies suggest that FAM129A mutations may be responsible for up to 5% of cases of unexplained intellectual disability. This highlights the significant impact of this gene on neurodevelopmental health.
