ATP6V1D
ATP6V1D: A Key Player in Cellular Function and Disease
Description
ATPase H+ Transporting V1 Domain Subunit D (ATP6V1D) is a protein that plays a crucial role in maintaining the pH balance within cells. It is part of the V-type ATPase complex, an enzyme that pumps protons (H+) across cellular membranes to create an acidic environment. This acidic environment is essential for various cellular processes, including protein degradation, drug metabolism, and nutrient uptake.
Associated Diseases
Mutations in the ATP6V1D gene have been linked to several diseases, primarily affecting the kidneys and bones:
- Distal Renal Tubular Acidosis (dRTA): This condition is characterized by the inability of the kidneys to properly acidify urine, leading to an imbalance of electrolytes in the body. Mutations in ATP6V1D are responsible for approximately 30% of cases of dRTA.
- Dent's Disease 1: A rare genetic disorder that manifests as a combination of dRTA, low potassium levels, and increased calcium in the urine.
- Osteoporosis-Pseudoglioma Syndrome: A rare condition characterized by severe osteoporosis, delayed bone development, and eye abnormalities.
- Rare Skeletal Diseases: Some mutations in ATP6V1D have been associated with rare skeletal diseases, such as osteogenesis imperfecta and hypophosphatemic rickets.
Did you Know ?
ATP6V1D mutations account for a significant proportion of inherited cases of dRTA. The prevalence of dRTA in the general population is estimated at 1 in 10,000, with ATP6V1D mutations contributing to approximately 30% of these cases.
