FAM95C
FAM95C: A Critical Gene in Neurological Function and Disease
Description
FAM95C (Family with sequence similarity 95, member C) encodes a protein that plays a crucial role in regulating synaptic function and neuronal development. FAM95C acts as a scaffolding protein, anchoring other proteins to specific subcellular locations within neurons.
Associated Diseases
Mutations or disruptions in FAM95C have been linked to several neurological disorders, including:
- Spinocerebellar ataxia type 23 (SCA23): A rare inherited disease characterized by progressive degeneration of the cerebellum and spinal cord, leading to impaired coordination, speech, and swallowing.
- Autism spectrum disorder (ASD): A developmental disorder affecting social interaction, communication, and behavior.
- Intellectual disability: Impairment in intellectual functioning and adaptive behaviors.
- Microcephaly: Abnormally small head circumference, often associated with intellectual disability.
Did you Know ?
Researchers estimate that FAM95C mutations account for approximately 1-3% of cases of SCA23.
