SLC22A12 Antibody – Rabbit Polyclonal

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]

SLC22A12: 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. Defects in SLC22A12 are the cause of hypouricemia renal type 1 (RHUC1). A disorder characterized by impaired uric acid reabsorption at the apical membrane of proximal renal tubule cells, and high urinary urate excretion. Patients often appear asymptomatic, but may be subject to exercise-induced acute renal failure, chronic renal dysfunction and nephrolithiasis. Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Membrane protein, integral; Transporter; Membrane protein, multi-pass; Transporter, SLC family

Chromosomal Location of Human Ortholog: 11q13.1

Cellular Component: brush border membrane; apical plasma membrane; integral to membrane; plasma membrane

Molecular Function: urate transmembrane transporter activity; PDZ domain binding

Biological Process: response to drug; urate transport; urate metabolic process; cellular homeostasis; organic acid transport; transmembrane transport

Disease: Hypouricemia, Renal, 1