FAM47C
Description
FAM47C, also known as Family with Sequence Similarity 47 Member C, is a protein encoded by the FAM47C gene in humans. It is a member of the FAM47 protein family, which plays a role in various cellular processes, including autophagy, mitochondrial function, and cell death.
FAM47C is a 389-amino acid protein that is primarily localized to the mitochondria. It contains several conserved domains, including a N-terminal mitochondrial targeting sequence, a coiled-coil domain, and a C-terminal transmembrane domain. The coiled-coil domain is involved in protein-protein interactions, while the transmembrane domain anchors the protein to the mitochondrial membrane.
Associated Diseases
Mutations in the FAM47C gene have been associated with several human diseases, including:
- Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS): MELAS is a rare genetic disorder characterized by muscle weakness, seizures, vision loss, and stroke-like episodes. Mutations in the FAM47C gene can cause MELAS by impairing mitochondrial function.
- Leigh syndrome: Leigh syndrome is a severe neurodegenerative disorder that affects infants and young children. FAM47C mutations can cause Leigh syndrome by disrupting mitochondrial respiration and energy production.
- Cardiomyopathy: Cardiomyopathy is a disease of the heart muscle. Mutations in the FAM47C gene can lead to dilated cardiomyopathy, a condition in which the heart muscle becomes enlarged and weakened.
- Diabetes: Some studies have suggested that mutations in the FAM47C gene may also increase the risk of developing type 2 diabetes.
Did you Know ?
Approximately 1 in 50,000 people are affected by a FAM47C mutation. However, the prevalence of these mutations may be higher in certain populations, such as those with a history of mitochondrial disorders.
