FAM73B
FAM73B: A Gene with Far-Reaching Implications
Description
FAM73B, also known as the Family with Sequence Similarity 73, Member B gene, plays a crucial role in various cellular processes. It encodes a protein called FAM73B, which belongs to a family of proteins involved in mitochondrial dynamics and apoptosis. FAM73B is primarily localized to the mitochondria, where it participates in regulating mitochondrial fusion and fission, maintaining mitochondrial structure and function, and promoting cell survival.
Associated Diseases
Mutations in the FAM73B gene have been linked to several human diseases, including:
- Mitochondrial diseases: FAM73B mutations can cause mitochondrial disorders, which are genetic conditions that impair mitochondrial function and can manifest as a wide range of symptoms, including muscle weakness, fatigue, neurological problems, and developmental delays.
- Parkinson‘s disease: Certain FAM73B variants have been associated with an increased risk of developing Parkinson‘s disease, a neurodegenerative disorder characterized by tremors, slow movement, and cognitive impairment.
- Cancer: Loss of FAM73B function has been implicated in the development and progression of various types of cancer, including breast cancer, leukemia, and lung cancer.
- Cardiovascular disease: FAM73B may play a role in regulating heart function and has been linked to cardiovascular diseases, such as heart failure and arrhythmias.
Did you Know ?
Approximately 1 in 10,000 individuals are carriers of a mutation in the FAM73B gene.
