ATP6V1H
ATP6V1H: The Proton Pump Vital for Cellular Functions
Description
ATP6V1H, also known as vacuolar-type H+-ATPase, is a multi-subunit protein complex found in the membranes of eukaryotic cells. It plays a critical role in maintaining the pH balance and ionic homeostasis within cellular compartments, primarily acidic organelles such as lysosomes and endosomes.
The ATP6V1H complex consists of up to 16 subunits, assembling into two distinct domains: the V0 domain and the V1 domain. The V0 domain is embedded in the membrane and forms a proton channel, allowing protons (H+) to flow across the membrane. The V1 domain projects into the cytoplasm and contains the ATP hydrolysis site, which provides the energy for proton pumping.
Associated Diseases
Mutations in the ATP6V1H gene have been linked to several inherited disorders, including:
- Osteopetrosis: A rare bone disease characterized by increased bone density due to impaired osteoclast function.
- Distal renal tubular acidosis (dRTA): A kidney disorder that affects the ability to excrete acids, leading to metabolic acidosis.
- Renal glycosuria: A condition where glucose is excreted in the urine due to defective reabsorption in the kidneys.
- Hypophosphatasia: A genetic disorder that affects bone mineralization and can lead to skeletal deformities.
Did you Know ?
Approximately 1 in 35,000 people worldwide is affected by osteopetrosis, with mutations in ATP6V1H being the most common genetic cause.
