SLC9A3

Chr 5AR

solute carrier family 9 member A3

Also known as: DIAR8, NHE-3, NHE3

NCBI Gene: 6550 ENSG00000066230 UniProt: P48764 OMIM: 182307

This sodium/hydrogen exchanger functions as a plasma membrane antiporter that exchanges intracellular H+ ions for extracellular Na+ in 1:1 stoichiometry, serving as the major apical Na+/H+ exchanger in kidney and intestine for sodium absorption and pH homeostasis. Mutations cause congenital secretory sodium diarrhea with autosomal recessive inheritance. The gene is highly constrained against loss-of-function variants, indicating intolerance to protein-disrupting mutations.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene is an epithelial brush border Na/H exchanger that uses an inward sodium ion gradient to expel acids from the cell. Defects in this gene are a cause of congenital secretory sodium diarrhea. Pseudogenes of this gene exist on chromosomes 10 and 22. [provided by RefSeq, Mar 2016]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Diarrhea 8, secretory sodium, congenitalMIM #616868

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.31

LOEUF· LoF intol.

Multiple*

Mechanism· predicted