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]
Forensic Context
A study in humans demonstrated that the SLC22A12 is expressed in kidney tissue with an average read count of 9,133 and was part of a targeted 46-mRNA biomarker panel for definitive organ identification using massively parallel sequencing [Hanson & Ballantyne DOI:10.3390/genes8110319]. A subsequent review further identified the SLC22A12 as a marker for kidney tissue identification within the broader field of forensic transcriptomics [Lei et al. DOI:10.1093/gpbjnl/qzag007].