Biology:SLC4A5

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A representation of the 3D structure of the protein myoglobin showing turquoise α-helices.
Generic protein structure example

Electrogenic sodium bicarbonate cotransporter 4 is a protein that in humans is encoded by the SLC4A5 gene.[1][2][3]

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.[3]

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.[4]

See also

References

  1. "Cloning, characterization and chromosomal assignment of NBC4, a new member of the sodium bicarbonate cotransporter family". Biochim Biophys Acta 1493 (1–2): 215–8. Nov 2000. doi:10.1016/S0167-4781(00)00149-4. PMID 10978526. 
  2. "Two C-terminal variants of NBC4, a new member of the sodium bicarbonate cotransporter family: cloning, characterization, and localization". IUBMB Life 50 (1): 13–9. Mar 2001. doi:10.1080/15216540050176539. PMID 11087115. 
  3. 3.0 3.1 "Entrez Gene: SLC4A5 solute carrier family 4, sodium bicarbonate cotransporter, member 5". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=57835. 
  4. "Targeted mutation of SLC4A5 induces arterial hypertension and renal metabolic acidosis". Hum. Mol. Genet. 21 (5): 1025–36. March 2012. doi:10.1093/hmg/ddr533. PMID 22082831. 

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.