Search for a gene
SLC22A12 - solute carrier family 22 member 12
- Synonym(s) : OAT4L, RST, URAT1
- Previous symbols and names : solute carrier family 22 (organic anion/cation transporter), member 12, solute carrier family 22 (organic anion/urate transporter), member 12
- Type : gene with protein product
- Chromosomal location : 11q13.1
- OMIM: 607096
- HGNC: 17989
- UniProtKB: Q96S37
- Genatlas: SLC22A12
- GenCC: SLC22A12
- Ensembl: ENSG00000197891
- IUPHAR-DB: 1031
- Reactome: Q96S37
- LOVD: SLC22A12
Diseases list
- Disease-causing germline mutation(s) (loss of function) in Hereditary renal hypouricemia
ORPHA:94088

Additional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.
Orphanet is part of the Gene Curation Coalition, a global effort to harmonise gene-level resources.