FAM35A
FAM35A: A Key Player in Human Development and Disease
Description
FAM35A (family with sequence similarity 35 member A) is a gene located on chromosome 1 that encodes a protein of the same name. This protein is a member of the FAM35 family, which plays a crucial role in cellular metabolism, signal transduction, and apoptosis, a type of programmed cell death.
FAM35A is particularly involved in regulating mitochondrial function, the energy powerhouses of cells. It interacts with other proteins within mitochondria to control energy production, antioxidant defense, and cellular respiration. Additionally, FAM35A has been found to play a role in cell cycle regulation, cell migration, and immune responses.
Associated Diseases
Mutations in the FAM35A gene have been linked to various human diseases, including:
- Mitochondrial myopathies: Impaired mitochondrial function can lead to muscle weakness, fatigue, and exercise intolerance.
- Neurodegenerative disorders: FAM35A mutations have been implicated in Parkinson‘s disease, Alzheimer‘s disease, and amyotrophic lateral sclerosis (ALS).
- Mitochondrial encephalopathy: A rare condition characterized by seizures, stroke-like episodes, and developmental delays.
- Congenital hypothyroidism: A disorder affecting the thyroid gland, resulting in reduced production of thyroid hormones.
- Immunodeficiencies: Mutations in FAM35A have been associated with impaired immune function, increasing susceptibility to infections.
Did you Know ?
Approximately 1 in 50,000 individuals is estimated to have a mutation in the FAM35A gene. While rare, these mutations can have significant effects on health and quality of life.
