FAM173A
FAM173A: A Gene Linked to Early-Onset Parkinson's Disease
Description
FAM173A (family with sequence similarity 173, member A) is a gene located on chromosome 1 that encodes a mitochondrial protein. This protein plays a crucial role in maintaining mitochondrial function and energy production in cells. Mutations in the FAM173A gene have been linked to early-onset Parkinson's disease, a neurodegenerative disorder characterized by tremors, rigidity, and difficulty with movement.
Associated Diseases
Mutations in FAM173A have been primarily associated with early-onset Parkinson's disease (PD). These mutations often lead to a loss or reduction in the function of the FAM173A protein, which disrupts mitochondrial function and triggers a cascade of events leading to neuronal death.
Did you Know ?
Approximately 5-10% of Parkinson's disease cases are attributed to mutations in the FAM173A gene. This highlights the significant contribution of genetic factors to the development of early-onset PD.
