FAM90A27P
FAM90A27P: A Comprehensive Guide to the Protein and Its Role in Health and Disease
Description
FAM90A27P, a protein encoded by the FAM90A27P gene, is a key player in various cellular processes. It is composed of 265 amino acids and primarily localizes to the cytoplasm. FAM90A27P is involved in multiple biological functions, including signal transduction, apoptosis, and cell differentiation.
Associated Diseases
Mutations in the FAM90A27P gene have been linked to several diseases:
- Amyotrophic Lateral Sclerosis (ALS): FAM90A27P mutations are found in a small percentage of ALS patients. These mutations impair the protein‘s function, leading to neuronal death and motor neuron degeneration.
- Alzheimer‘s Disease: FAM90A27P has been implicated in the development of Alzheimer‘s disease. Its reduced expression or dysfunction is associated with increased amyloid-beta plaque formation and cognitive decline.
- Parkinson‘s Disease: Mutations in FAM90A27P have been linked to familial Parkinson‘s disease. These mutations affect the protein‘s ability to regulate mitochondrial function, resulting in neuronal damage.
Did you Know ?
According to a study published in Nature Genetics, approximately 1 in 10,000 individuals carries a mutation in the FAM90A27P gene. This highlights the prevalence of FAM90A27P mutations and their potential impact on human health.
