SLC4A4

Chr 4AR

solute carrier family 4 member 4

Also known as: HNBC1, KNBC, NBC1, NBC2, NBCe1, NBCe1-A, PRTAO, SLC4A5

NCBI Gene: 8671 ENSG00000080493 UniProt: Q9Y6R1 OMIM: 603345

This gene encodes an electrogenic sodium/bicarbonate cotransporter that regulates bicarbonate transport across cell membranes and maintains intracellular pH. Mutations cause proximal renal tubular acidosis with ocular anomalies, inherited in an autosomal recessive pattern. The gene is highly constrained against loss-of-function variants, indicating its critical importance for normal cellular function.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a sodium bicarbonate cotransporter (NBC) involved in the regulation of bicarbonate secretion and absorption and intracellular pH. Mutations in this gene are associated with proximal renal tubular acidosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]

OMIM ResearchGenerating clinical summary…

LOFmechanismARLOEUF 0.271 OMIM phenotype

Clinical Summary— SLC4A4

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Population Constraint (gnomAD)

Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 1.00). One damaged copy is likely sufficient to cause disease.

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