FAM172BP
FAM172BP: An Emerging Player in Neurodegenerative Diseases
Description
FAM172BP (Family with Sequence Similarity 172 Member B) is a protein-coding gene involved in regulating neural development and synaptic function. It encodes a protein that plays a crucial role in the assembly and stabilization of the postsynaptic density (PSD), a complex of proteins essential for synaptic communication. Mutations in FAM172BP have been linked to various neurodegenerative disorders, including autism spectrum disorder (ASD), intellectual disability (ID), and schizophrenia.
Associated Diseases
Mutations in FAM172BP have been implicated in the following neurodevelopmental and neurodegenerative diseases:
- Autism Spectrum Disorder (ASD): FAM172BP mutations are found in approximately 1-2% of ASD cases. They are associated with social and communication deficits, as well as repetitive behaviors.
- Intellectual Disability (ID): Mutations in FAM172BP can cause severe to profound intellectual disability. Individuals with these mutations may have impaired cognitive abilities, language delays, and difficulty with adaptive functioning.
- Schizophrenia: FAM172BP has been identified as a risk factor for schizophrenia, a severe psychiatric disorder characterized by hallucinations, delusions, and disorganized thinking.
Did you Know ?
Research has shown that carriers of a single FAM172BP mutation have a 3-fold increased risk of developing ASD or ID compared to non-carriers.
