ATP4B

Chr 13

ATPase H+/K+ transporting subunit beta

Also known as: ATP6B

NCBI Gene: 496 ENSG00000186009 UniProt: P51164 OMIM: 137217

The beta subunit of gastric H+/K+-ATPase functions as a proton pump that exchanges hydrogen and potassium ions across the membrane of gastric parietal cells, playing structural and regulatory roles in gastric acid secretion. Mutations cause congenital chloride diarrhea with gastric hypochlorhydria, inherited in an autosomal recessive pattern. This gene shows low constraint against loss-of-function variants (pLI near 0), consistent with recessive inheritance where heterozygous carriers are typically unaffected.

OMIM ResearchSummary from RefSeq, UniProt

The protein encoded by this gene belongs to a family of P-type cation-transporting ATPases. The gastric H+, K+-ATPase is a heterodimer consisting of a high molecular weight catalytic alpha subunit and a smaller but heavily glycosylated beta subunit. This enzyme is a proton pump that catalyzes the hydrolysis of ATP coupled with the exchange of H(+) and K(+) ions across the plasma membrane. It is also responsible for gastric acid secretion. This gene encodes the beta subunit of the gastric H+, K+-ATPase. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)