Reference Gene
| Gene name | Alias | Species | Exons | Type | Paralogs | EC number | OMIM |
|---|---|---|---|---|---|---|---|
| SLC22A12 solute carrier family 22 member 12 | RST , UAT , OAT4L , URAT1 , hURAT1 | Homo sapiens | 9 | protein-coding | SLC22A23 , SLC22A17 , SLC22A31 , SLC22A15 , SLC22A16 , SLC22A3 , SLC22A1 , SLC22A2 , SLC22A24 , SLC22A9 , SLC22A25 , SLC22A10 , SLC22A11 , SLC22A20P , SLC22A8 , SLC22A6 , SLC22A5 , SLC22A4 , SLC22A7 , SLC22A14 , SLC22A13 , SVOPL , SVOP | 607096 |
Summary
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]
Gene Loss events - SLC22A12 (2 results)
| GL_ID | Species | Order | Gene Loss Mechanism | Loss Type | Lineage Specific | Citation |
|---|---|---|---|---|---|---|
| GL_GG1ZZL | Pteropus vampyrus | Chiroptera | Exon(s) deletion | Full | No | 10.1038/s41467-018-03667-1 |
| GL_W1BAR2 | Pteropus alecto | Chiroptera | Exon(s) deletion | Full | No | 10.1038/s41467-018-03667-1 |