FAM90A10P
FAM90A10P: A Critical Gene Implicated in Neurodevelopmental Disorders
Description:
FAM90A10P (Family with Sequence Similarity 90 Member A10 Protein) encodes a protein of 986 amino acids that plays a crucial role in neuronal development and function. FAM90A10P is highly expressed in the fetal brain and continues to be expressed throughout adulthood in various brain regions, including the hippocampus, cortex, and cerebellum.
Associated Diseases:
Mutations in the FAM90A10P gene have been linked to several neurodevelopmental disorders, including:
- Autism Spectrum Disorder (ASD): Studies have identified mutations in FAM90A10P as a risk factor for ASD. These mutations are often associated with intellectual disability, speech impairment, and social difficulties.
- Intellectual Disability (ID): Mutations in FAM90A10P can lead to global developmental delay and intellectual disabilities ranging from mild to severe.
- microcephaly: Mutations in FAM90A10P can result in microcephaly, a condition characterized by an abnormally small head size and impaired brain growth.
- Neurodegenerative disorders: Mutations in FAM90A10P have been implicated in neurodegenerative disorders such as Alzheimer‘s disease and frontotemporal dementia.
Did you Know ?
- Mutations in FAM90A10P have been identified in approximately 1% of individuals with ASD.
