The ROGDI protein mutated in Kohlschutter-Tonz syndrome is a novel subunit of the Rabconnectin-3 complex implicated in V-ATPase assembly.

ABSTRACT: V-ATPases are highly conserved ATP-driven rotary proton pumps found widely among eukaryotes that are composed of two subcomplexes: V₁ and V₀. V-ATPase activity is regulated in part through reversible disassembly, during which V₁ physically separates from V₀ and both subcomplexes become inactive. Reassociation of V₁ to V₀ reactivates the complex for ATP-driven proton pumping and organelle acidification. V-ATPase reassembly in Saccharomyces cerevisiae requires the RAVE complex (Rav1, Rav2, and Skp1), and higher eukaryotes, including humans, utilize the Rabconnectin-3 complex. Mammalian Rabconnectin-3 has two subunits: Rabconnectin-3α and Rabconnectin-3β. Rabconnectin-3α isoforms are homologous to Rav1, but there is no known Ra

SUBMITTER: Winkley SR 

PROVIDER: S-EPMC11997317 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature