Gene Symbol | SLC4A4 |
Entrez Gene ID | 8671 |
Full Name | solute carrier family 4 member 4 |
Synonyms | HNBC1,KNBC,NBC1,NBC2,NBCe1-A,SLC4A5,hhNMC,kNBC1,pNBC |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Renal tubular acidosis, proximal, with ocular abnormalities, 604278 (3) |