ATP6V0E1
ATP6V0E1: A Gene Essential for Cellular Function
Description:
ATP6V0E1 is a gene that encodes a protein known as the vacuolar ATPase subunit e1. This protein plays a vital role in the function of vacuolar ATPases, which are enzymes responsible for acidifying the interior of cellular organelles called lysosomes. Lysosomes serve as the cell's waste disposal system, breaking down and recycling damaged proteins, lipids, and carbohydrates.
Associated Diseases:
Mutations in the ATP6V0E1 gene have been linked to two rare genetic disorders:
- Distal Renal Tubular Acidosis (dRTA): A condition characterized by the kidneys' inability to properly acidify urine, leading to excessive loss of bicarbonate ions in the urine. This can result in growth retardation, rickets, and electrolyte imbalances.
- Osteopetrosis with Renal Tubular Acidosis (OPRA): A rare form of osteopetrosis, a condition where the bones are abnormally dense and prone to fractures. This is due to the impaired functioning of osteoclasts, cells responsible for bone resorption.
Did you Know ?
Mutations in the ATP6V0E1 gene are responsible for approximately 2-5% of cases of dRTA.
