FAM25BP
Title: FAM25BP: A Gene Linked to Multiple Neurodevelopmental and Neurological Disorders
Introduction:
FAM25BP (family with sequence similarity 25 member B) is a gene located on chromosome 19p13.3. It encodes a protein involved in the regulation of synaptic function and neuronal development. Variants in the FAM25BP gene have been associated with a range of neurodevelopmental and neurological disorders. This blog post will delve into the role of FAM25BP, its associated diseases, the latest research findings, and the potential implications for diagnosis and treatment.
Description of FAM25BP:
FAM25BP is a 2,157-amino acid protein that contains 25 conserved domains, including WD40 repeats, a ubiquitin-like domain, and a coiled-coil domain. It acts as a scaffolding protein that interacts with numerous other proteins involved in synaptic function, including postsynaptic density-95 (PSD-95) and neuroligin-1. FAM25BP is highly expressed in the brain, particularly in the hippocampus, which is responsible for memory and learning.
Associated Diseases:
Variants in the FAM25BP gene have been linked to several neurodevelopmental and neurological disorders, including:
- Intellectual disability (ID): Mutations in FAM25BP are associated with a range of ID phenotypes, from mild to severe. Individuals may exhibit developmental delays, language impairments, and social difficulties.
- Autism spectrum disorder (ASD): Some studies have identified an association between FAM25BP variants and an increased risk of ASD. Individuals may exhibit social communication deficits, repetitive behaviors, and restricted interests.
- Fragile X syndrome (FXS): FAM25BP has been implicated as a potential modifier gene in FXS, a genetic condition that causes intellectual disability and behavioral problems.
- Epilepsy: Certain FAM25BP mutations have been associated with an increased susceptibility to epilepsy, particularly generalized tonic-clonic seizures.
- Schizophrenia: Recent research suggests that FAM25BP may play a role in the development of schizophrenia, a severe mental disorder characterized by hallucinations, delusions, and impaired cognitive function.
Did you Know ?
Studies have estimated that pathogenic variants in FAM25BP account for approximately 1% of cases of idiopathic intellectual disability (ID), meaning ID without a known cause.
