Electrogenic sodium bicarbonate cotransporter 4 explained
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]
Further reading
- Soleimani M, Burnham CE . Na+:HCO(3-) cotransporters (NBC): cloning and characterization . J. Membr. Biol. . 183 . 2 . 71–84 . 2002 . 11562789 . 10.1007/s00232-001-0055-8 . 26570876 .
- Hunt SC, Xin Y, Wu LL, Cawthon RM, Coon H, Hasstedt SJ, Hopkins PN . Sodium bicarbonate cotransporter polymorphisms are associated with baseline and 10-year follow-up blood pressures . Hypertension . 47 . 3 . 532–6 . 2006 . 16365189 . 10.1161/01.HYP.0000196949.26088.3c . free .
- Xu J, Wang Z, Barone S, Petrovic M, Amlal H, Conforti L, Petrovic S, Soleimani M . Expression of the Na+-HCO-3 cotransporter NBC4 in rat kidney and characterization of a novel NBC4 variant . Am. J. Physiol. Renal Physiol. . 284 . 1 . F41–50 . 2003 . 12388414 . 10.1152/ajprenal.00055.2002 .
- Pushkin A, Abuladze N, Newman D, Tatishchev S, Kurtz I . Genomic organization of the DCTN1-SLC4A5 locus encoding both NBC4 and p150(Glued) . Cytogenet. Cell Genet. . 95 . 3–4 . 163–8 . 2002 . 12063394 . 10.1159/000059340 . 46587599 .
- Sassani P, Pushkin A, Gross E, Gomer A, Abuladze N, Dukkipati R, Carpenito G, Kurtz I . Functional characterization of NBC4: a new electrogenic sodium-bicarbonate cotransporter . Am. J. Physiol., Cell Physiol. . 282 . 2 . C408–16 . 2002 . 11788353 . 10.1152/ajpcell.00409.2001 .
Notes and References
- Pushkin A, Abuladze N, Newman D, Lee I, Xu G, Kurtz I . 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 . 10978526 . 10.1016/S0167-4781(00)00149-4 .
- Pushkin A, Abuladze N, Newman D, Lee I, Xu G, Kurtz I . 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 . 11087115 . 10.1080/15216540050176539 . 43332428 .
- Web site: Entrez Gene: SLC4A5 solute carrier family 4, sodium bicarbonate cotransporter, member 5.
- Gröger N, Vitzthum H, Fröhlich H, Krüger M, Ehmke H, Braun T, Boettger T . Targeted mutation of SLC4A5 induces arterial hypertension and renal metabolic acidosis . Hum. Mol. Genet. . 21 . 5 . 1025–36 . March 2012 . 22082831 . 10.1093/hmg/ddr533 . free .