ATP6V1B1 : ATPase H+ transporting V1 subunit B1
Description
The ATP6V1B1 gene provides instructions for making a subunit of the vacuolar (V)-ATPase, a protein complex responsible for acidifying intracellular compartments in eukaryotic cells. This acidification is crucial for various cellular processes, including protein sorting, enzyme activity, and membrane trafficking. The V-ATPase is a proton pump that uses energy from ATP hydrolysis to move protons across membranes, creating an acidic environment within organelles like lysosomes, endosomes, and secretory vesicles. Mutations in ATP6V1B1 can disrupt the function of the V-ATPase, leading to a variety of diseases.
Associated Diseases
- Diabetic Nephropathy
- Charcot-Marie-Tooth Disease Type 4C
- Osteoporosis
- Hearing Loss
- Renal Tubular Acidosis
- Neurological Disorders
- Cancer
- Inflammatory Bowel Disease
Did you know?
Mutations in ATP6V1B1 have been linked to both increased and decreased bone density, highlighting the complex role of the V-ATPase in bone metabolism.
