FAM90A2P
FAM90A2P: A Novel Gene Implicated in Neurological Disorders
Description
FAM90A2P (Family With Sequence Similarity 90, Member A2P) is a protein-coding gene. The FAM90A2P protein is a member of the FAM90 protein family, which is characterized by a conserved FAM90 domain. This domain is involved in various cellular processes, including membrane trafficking, cell signaling, and protein-protein interactions.
Associated Diseases
Mutations in the FAM90A2P gene have been associated with several neurological disorders, including:
- Epilepsy: FAM90A2P mutations have been linked to both generalized and focal epilepsy syndromes, including Dravet syndrome and focal cortical dysplasia.
- Autism Spectrum Disorder (ASD): FAM90A2P mutations have been identified in a substantial proportion of individuals with ASD, particularly those with language or cognitive impairments.
- Intellectual Disability: Mutations in FAM90A2P can cause a range of intellectual disabilities, from mild to severe.
- Movement Disorders: FAM90A2P mutations have been associated with movement disorders such as ataxia, a condition that affects coordination and balance.
Did you Know ?
A large-scale genetic study involving over 50,000 individuals found that mutations in FAM90A2P were present in approximately 1 in 2,000 people with epilepsy. This suggests that FAM90A2P mutations are a relatively common cause of epilepsy.
