Electrogenic sodium bicarbonate cotransporter 4 is a protein that in humans is encoded by the SLC4A5 gene.[5][6][7]
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.[7]
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.[8]
See also
- SLC4A5+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000188687 - Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000068323 - Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ Pushkin A, Abuladze N, Newman D, Lee I, Xu G, Kurtz I (Nov 2000). "Cloning, characterization and chromosomal assignment of NBC4, a new member of the sodium bicarbonate cotransporter family". Biochim Biophys Acta. 1493 (1–2): 215–8. doi:10.1016/S0167-4781(00)00149-4. PMID 10978526.
- ^ Pushkin A, Abuladze N, Newman D, Lee I, Xu G, Kurtz I (Mar 2001). "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. doi:10.1080/15216540050176539. PMID 11087115. S2CID 43332428.
- ^ a b "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 (March 2012). "Targeted mutation of SLC4A5 induces arterial hypertension and renal metabolic acidosis". Hum. Mol. Genet. 21 (5): 1025–36. doi:10.1093/hmg/ddr533. PMID 22082831.
Further reading
- Soleimani M, Burnham CE (2002). "Na+:HCO(3-) cotransporters (NBC): cloning and characterization". J. Membr. Biol. 183 (2): 71–84. doi:10.1007/s00232-001-0055-8. PMID 11562789. S2CID 26570876.
- Hunt SC, Xin Y, Wu LL, Cawthon RM, Coon H, Hasstedt SJ, Hopkins PN (2006). "Sodium bicarbonate cotransporter polymorphisms are associated with baseline and 10-year follow-up blood pressures". Hypertension. 47 (3): 532–6. doi:10.1161/01.HYP.0000196949.26088.3c. PMID 16365189.
- Xu J, Wang Z, Barone S, Petrovic M, Amlal H, Conforti L, Petrovic S, Soleimani M (2003). "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. doi:10.1152/ajprenal.00055.2002. PMID 12388414.
- Pushkin A, Abuladze N, Newman D, Tatishchev S, Kurtz I (2002). "Genomic organization of the DCTN1-SLC4A5 locus encoding both NBC4 and p150(Glued)". Cytogenet. Cell Genet. 95 (3–4): 163–8. doi:10.1159/000059340. PMID 12063394. S2CID 46587599.
- Sassani P, Pushkin A, Gross E, Gomer A, Abuladze N, Dukkipati R, Carpenito G, Kurtz I (2002). "Functional characterization of NBC4: a new electrogenic sodium-bicarbonate cotransporter". Am. J. Physiol., Cell Physiol. 282 (2): C408–16. doi:10.1152/ajpcell.00409.2001. PMID 11788353.
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This page was last edited on 18 August 2023, at 09:54