DISEASES

Disease-gene associations mined from literature

Literature associating SLC4A4 and autosomal recessive osteopetrosis 7

SLC4A4 [ENSP00000393557]

Electrogenic sodium bicarbonate cotransporter 1; Electrogenic sodium/bicarbonate cotransporter with a Na(+):HCO3(-) stoichiometry varying from 1:2 to 1:3. May regulate bicarbonate influx/efflux at the basolateral membrane of cells and regulate intracellular pH. ECO:0000269|PubMed:12907161, ECO:0000269|PubMed:16636648, ECO:0000269|PubMed:16769890, ECO:0000269|PubMed:17661077, ECO:0000269|PubMed:29500354, ECO:0000269|PubMed:9235899,; Belongs to the anion exchanger (TC 2.A.31) family.

Synonyms:  SLC4A4,  SLC4A4p,  hSLC4A4,  A0A024RD97,  A0A1W2PNW8 ...

Linkouts:  STRING  Pharos  UniProt  OMIM