FAM64A
FAM64A: A Gene with Intriguing Roles in Health and Disease
Description
FAM64A, also known as family with sequence similarity 64 member A, is a gene located on chromosome 11 in humans. It encodes a protein that is predominantly found within the cell membrane. FAM64A is part of a family of proteins known as tetraspanins, which are involved in various cellular functions, including cell signaling, cell adhesion, and cell migration.
Associated Diseases
Mutations in the FAM64A gene have been linked to several diseases, including:
- Amyotrophic lateral sclerosis (ALS): A neurodegenerative disease that affects motor neurons, leading to progressive muscle weakness and paralysis.
- Frontotemporal dementia (FTD): A group of neurological disorders characterized by changes in personality, behavior, and language.
- Parkinson‘s disease: A neurodegenerative disorder that causes tremors, muscle rigidity, and impaired movement.
- Bowen‘s disease: A type of skin cancer caused by abnormal growth of skin cells.
Did you Know ?
Approximately 1 in 100 people carry a mutation in the FAM64A gene. However, the penetrance of these mutations is variable, meaning that not all carriers will develop symptoms of the associated diseases.
