FAM87A
FAM87A: A Key Player in Neurodevelopment and Neurological Disorders
Description
FAM87A, also known as Family With Sequence Similarity 87 Member A, is a gene that encodes a protein with important roles in neurodevelopment and neuronal function. This membrane-associated protein is highly expressed in the developing brain and plays a crucial role in synaptic plasticity, learning, and memory.
Associated Diseases
Mutations in the FAM87A gene have been linked to several neurological disorders, including:
- Intellectual Disability (ID): FAM87A mutations can cause a range of cognitive deficits, including intellectual disability, autism spectrum disorder, and language impairments.
- Epilepsy: Mutations in FAM87A have been associated with various types of epilepsy, including intractable epilepsy and drug-resistant seizures.
- Neurodegenerative Disorders: FAM87A has also been implicated in neurodegenerative diseases such as Parkinson‘s disease and Alzheimer‘s disease.
Did you Know ?
Approximately 0.5-1% of individuals with intellectual disability have mutations in the FAM87A gene, making it one of the most common genetic causes of this condition.
