ATP6V0A4 : ATPase H+ transporting V0 subunit a4

Description

The ATP6V0A4 gene encodes the a4 subunit of the vacuolar H+-ATPase (V-ATPase), a proton pump that plays a crucial role in maintaining cellular pH homeostasis. This pump is found in various cellular compartments, including lysosomes, endosomes, and the plasma membrane, where it actively transports protons across membranes, contributing to the acidification of these compartments. The a4 subunit is essential for the proper assembly and function of the V-ATPase complex, ensuring its efficient proton pumping activity. Mutations in the ATP6V0A4 gene can lead to impaired V-ATPase function, resulting in disrupted pH regulation and potential cellular dysfunction.

Associated Diseases

• Hereditary Inclusion Body Myopathy (HIBM)
• Distal Renal Tubular Acidosis (dRTA)
• Osteopetrosis
• Neurodevelopmental Disorders

Did you know?

Mutations in ATP6V0A4 can cause a wide range of symptoms, highlighting its importance in various cellular processes.