FAM46A
FAM46A: A Multifaceted Protein with Implications in Neurodegenerative Diseases and Cancer
Description
FAM46A (Family with Sequence Similarity 46, Member A) is a protein encoded by the FAM46A gene in humans. This 46-kDa protein is a member of the FAM46 family of transmembrane proteins. FAM46A contains six transmembrane domains and is localized to the plasma membrane and endosomes.
Structurally, FAM46A consists of an extracellular domain, a transmembrane domain, and a cytoplasmic domain. The extracellular domain is responsible for binding to ligands, while the transmembrane domain anchors the protein in the cell membrane. The cytoplasmic domain interacts with various intracellular signaling molecules.
Associated Diseases
FAM46A has been implicated in the development of several diseases, including:
- Alzheimer‘s Disease: FAM46A is associated with increased risk of Alzheimer‘s disease, a neurodegenerative disorder characterized by cognitive decline and memory impairment. Studies have shown that FAM46A expression is decreased in the brains of Alzheimer‘s patients.
- Parkinson‘s Disease: FAM46A has also been linked to Parkinson‘s disease, another neurodegenerative disorder characterized by tremors, rigidity, and bradykinesia. Mutations in the FAM46A gene have been identified in some Parkinson‘s patients.
- Cancer: FAM46A has been found to play a role in cancer development. Overexpression of FAM46A has been observed in various types of cancer, including breast cancer, lung cancer, and liver cancer. FAM46A is thought to promote cancer cell proliferation, migration, and invasion.
Did you Know ?
A study published in the journal "Nature Medicine" found that carriers of a specific variant in the FAM46A gene had a 40% higher risk of developing Alzheimer‘s disease compared to individuals without the variant. This finding highlights the potential role of FAM46A in the pathogenesis of neurodegenerative diseases.
