FAM225A
FAM225A: A Gene Implicated in Multiple Diseases
Description
FAM225A (Family with sequence similarity 225, member A) is a gene that encodes a protein involved in various cellular processes. It is primarily expressed in the brain and plays a crucial role in the formation and maintenance of neural circuits. FAM225A interacts with several other proteins and is essential for the proper functioning of neurons and synapses. Mutations or dysregulation of FAM225A have been linked to a spectrum of neurodevelopmental and psychiatric disorders.
Associated Diseases
Dysfunction of FAM225A has been implicated in the following diseases:
- Intellectual Disability: Mutations in FAM225A have been found in individuals with intellectual disability, often accompanied by speech and language impairments, social difficulties, and motor coordination problems.
- Autism Spectrum Disorder: FAM225A has been linked to autism spectrum disorder, with mutations in the gene contributing to the core symptoms of social deficits, repetitive behaviors, and restricted interests.
- Schizophrenia: Studies have suggested an association between FAM225A variants and the risk of developing schizophrenia, a severe mental disorder characterized by delusions, hallucinations, and impaired cognitive function.
- Epilepsy: FAM225A mutations have been identified in individuals with epilepsy, a neurological disorder characterized by recurrent seizures. The gene‘s role in neuronal function is thought to contribute to the abnormal electrical activity in the brain that causes seizures.
- Alzheimer‘s Disease: FAM225A has been implicated in Alzheimer‘s disease, the most common form of dementia. Mutations or reduced expression of the gene may affect neuronal integrity and contribute to the cognitive decline and memory loss associated with the disease.
Did you Know ?
Approximately 1 in 100,000 individuals is estimated to carry a mutation in the FAM225A gene, making it a relatively rare cause of neurodevelopmental disorders. However, it is believed to have a significant impact on affected individuals and families.
