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Article

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

The Journal of biological chemistry - 1 Apr 2025

Winkley Samuel R, Kane Patricia M

Abstract excerpt

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...

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Identifiers

PMID: 40049412
DOI: 10.1016/j.jbc.2025.108381
PMCID: PMC11997317

Genes

ROGDI

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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