基因名:
SLC4A4
产品别名:
HNBC1; KNBC; NBC1; NBC2; NBCe1-A; SLC4A5; hhNMC; kNBC1; pNBC; SLC4A4; solute carrier family 4 member 4; solute carrier family 4 member 4; electrogenic sodium bicarbonate cotransporter 1; Na(+)/HCO3(-) cotransporter; sodium bicarbonate cotransporter 1 (sodium bicarbonate cotransporter, kidney; sodium bicarbonate cotransporter, pancreas); solute carrier family 4 (sodium bicarbonate cotransporter), member 4; solute carrier family 4, sodium bicarbonate cotransporter, member 4, brain type; solute carrier family 4, sodium bicarbonate cotransporter, member 5; 碳酸氢钠协同转运蛋白4-A4; 碳酸氢钠协同转运蛋白4-A4突变型;
背景信息:
SLC4A4 (Electrogenic sodium bicarbonate cotransporter 1) is an electrogenic sodium/bicarbonate cotransporter with a Na(+):HCO3(-) stoichiometry varying from 1:2 to 1:3. It may regulate bicarbonate influx/efflux at the basolateral membrane of cells and regulate intracellular pH. SLC4A4 interacts with carbonic anhydrase 2 and carbonic anhydrase 4 which may regulate transporter activity. There are four named isoforms produced by alternative splicing.
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].