DISEASES

Disease-gene associations mined from literature

Literature associating SLC4A5 and branchiootorenal syndrome 1

SLC4A5 [ENSP00000251768]

Electrogenic sodium bicarbonate cotransporter 4; Mediates sodium- and bicarbonate-dependent electrogenic sodium bicarbonate cotransport, with a Na(+):HCO3(-) stoichiometry of 2:1. May have a housekeeping function in regulating the pH of tissues in which it is expressed. May play a role in mediating Na(+):HCO3(-) cotransport in hepatocytes and intrahepatic cholangiocytes. Also may be important in protecting the renal paranchyma from alterations in urine pH; Belongs to the anion exchanger (TC 2.A.31) family.

Synonyms:  SLC4A5,  SLC4A5p,  hSLC4A5,  A0A1B0GUV9,  A0A1B0GVY3 ...

Linkouts:  STRING  Pharos  UniProt