Species Human Entrez 57835 | Human Mouse Ensembl ENSG00000188687 | |
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Aliases SLC4A5, NBC4, NBCe2, solute carrier family 4 member 5 External IDs MGI: 2443220 HomoloGene: 31125 GeneCards: SLC4A5 | ||
Electrogenic sodium bicarbonate cotransporter 4 is a protein that in humans is encoded by the SLC4A5 gene.
Contents
Function
This gene encodes a member of the sodium bicarbonate cotransporter (NBC) family, part of the bicarbonate transporter superfamily. Sodium bicarbonate cotransporters are involved in intracellular pH regulation and electroneural or electrogenic sodium bicarbonate transport. This protein is thought to be an integral membrane protein. Multiple transcript variants encoding different isoforms have been found for this gene, but the biological validity of some variants has not been determined.
Clinical significance
This human gene has been identified as a hypertension susceptibility gene based on the association of single nucleotide polymorphisms with blood pressure (BP) levels and hypertension status.