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Article

Expanding the phenotype of ATP6AP1 deficiency.

Cold Spring Harbor molecular case studies - 1 Jun 2022

Barua Subit, Berger Sara, Pereira Elaine M, Jobanputra Vaidehi

Abstract excerpt

Vacuolar ATPases (V-ATPases) are large multisubunit proton pumps conserved among all eukaryotic cells that are involved in diverse functions including acidification of membrane-bound intracellular compartments. The ATP6AP1 gene encodes an accessory subunit of the vacuolar (V)-ATPase protein pump. Pathogenic variants in ATP6AP1 have been described in association with a congenital disorder of glycosylation (CDG),...

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Identifiers

PMID: 35732497
DOI: 10.1101/mcs.a006195
PMCID: PMC9235842

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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