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SLC12A1

—Solute Carrier Family 12 Member 1

Chromosome: 15

Location: 15:48178392-48304078

OMIM: 600839

Ensembl: ENSG00000074803

Official·OMIM:600839 Official·ENSG00000074803

Encodes NKCC2 sodium-potassium-chloride co-transporter. Mutations cause Bartter syndrome type 1.

Treatment Roadmap — SLC12A1

Preclinical

Phase 1

Phase 2

Phase 3

Approved

Clinical trials have approximately 10% success rate. This roadmap shows the current status, not guaranteed outcomes.

Associated Diseases

Bartter Syndrome

Autosomal RecessivePrevalence: 1/100000renal

Official·OMIM:601678 Official·ORPHA112

Summary

Clinical Trial

Approved Therapy

Registered Variant