The vacuolar H+-ATPase is a multisubunit enzyme which plays an essential role in the
acidification and functions of lysosomes, endosomes, and synaptic vesicles. Many genes …

Abstract ATP6V1B2 pathogenic variants are linked with variable phenotypes, such as
dominant deafness‐onychodystrophy syndrome (DDOD), autosomal dominant Zimmermann …

ATP6V1B2 encodes the V1B2 subunit in V-ATPase, a proton pump responsible for the
acidification of lysosomes. Mutations in this gene cause DDOD syndrome, DOORS …

Abstract ATP6V1B2 encodes the subunit of the vacuolar H+‐ATPase, which is an enzyme
responsible for the acidification of intracellular organelles and essential for cell signaling …

The vacuolar H+-ATPase is a large multi-subunit proton pump, composed of an integral
membrane V0 domain, involved in proton translocation, and a peripheral V1 domain …

The vacuolar H+-ATPase is an enzymatic complex that functions in an ATP-dependent
manner to pump protons across membranes and acidify organelles, thereby creating the …

Abstract V-type proton (H+) ATPase (v-ATPase) is a multi-subunit proton pump that
regulates pH homeostasis in all eukaryotic cells; in neurons, v-ATPase plays additional and …

The vacuolar-type ATPase (V-ATPase) is a multisubunit protein composed of the cytosolic
adenosine triphosphate (ATP) hydrolysis catalyzing V1 complex, and the integral membrane …

Rare human ATP6V1A variants provide unique insights into V-ATPase functions | Brain | Oxford
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Abstract Vacuolar-type H+-ATPase (V-ATPase) is a multimeric complex present in a variety
of cellular membranes that acts as an ATP-dependent proton pump and plays a key role in …