Aliases for SLC22A12 Gene
External Ids for SLC22A12 Gene
Previous GeneCards Identifiers for SLC22A12 Gene
The protein encoded by this gene is a member of the organic anion transporter (OAT) family, and it acts as a urate transporter to regulate urate levels in blood. This protein is an integral membrane protein primarily found in epithelial cells of the proximal tubule of the kidney. An elevated level of serum urate, hyperuricemia, is associated with increased incidences of gout, and mutations in this gene cause renal hypouricemia type 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]
GeneCards Summary for SLC22A12 Gene
SLC22A12 (Solute Carrier Family 22 Member 12) is a Protein Coding gene. Diseases associated with SLC22A12 include Hypouricemia, Renal, 1 and Hyperuricemia. Among its related pathways are Allopurinol Pathway, Pharmacokinetics and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Gene Ontology (GO) annotations related to this gene include PDZ domain binding and urate transmembrane transporter activity. An important paralog of this gene is SLC22A11.
UniProtKB/Swiss-Prot Summary for SLC22A12 Gene
Required for efficient urate re-absorption in the kidney. Regulates blood urate levels. Mediates saturable urate uptake by facilitating the exchange of urate against organic anions.