SLC9A8

Chr 20

solute carrier family 9 member A8

Also known as: NHE-8, NHE8

NCBI Gene: 23315 ENSG00000197818 UniProt: Q9Y2E8 OMIM: 612730

SLC9A8 encodes a sodium-hydrogen antiporter that exchanges intracellular H+ for extracellular Na+ in 1:1 stoichiometry, functioning primarily in the trans-Golgi to regulate pH and protein trafficking, and also contributing to intestinal sodium absorption and retinal pigment epithelium pH homeostasis. Mutations cause autosomal recessive intellectual developmental disorder with seizures, microcephaly, and cerebellar atrophy. This gene is not constrained against loss-of-function variants, consistent with its recessive inheritance pattern.

OMIM ResearchSummary from RefSeq, UniProt

Sodium-hydrogen exchangers (NHEs), such as SLC9A8, are integral transmembrane proteins that exchange extracellular Na+ for intracellular H+. NHEs have multiple functions, including intracellular pH homeostasis, cell volume regulation, and electroneutral NaCl absorption in epithelia (Xu et al., 2008 [PubMed 18209477]).[supplied by OMIM, Apr 2009]

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)