ATP6V0C
ATP6V0C: A Crucial Gene for Cellular Function
Description
ATP6V0C is a gene that encodes a protein essential for the proper function of cells. The protein it produces is a component of the V-type ATPase proton pump, which is responsible for maintaining the pH balance within cells and organelles. This pump is vital for numerous cellular processes, including nutrient uptake, waste removal, and cell signaling.
Associated Diseases
Mutations in the ATP6V0C gene have been linked to several inherited disorders, including:
- Osteopetrosis: A rare condition characterized by increased bone density and fragility.
- Distal renal tubular acidosis (dRTA): A kidney disorder that leads to an inability to concentrate urine, resulting in electrolyte imbalances.
- Hemolytic anemia: A condition where red blood cells are prematurely destroyed, causing anemia.
- Congenital heart disease: Birth defects involving the structure or function of the heart.
Did you Know ?
Approximately 1 in 100,000 people worldwide are affected by osteopetrosis, which is caused by mutations in the ATP6V0C gene. This rare condition highlights the importance of this gene for skeletal development and overall health.
