Table 1.
Protein | Gene | Structure or Cell Type Relevant to Water Balance |
Manifestation of Loss of Function* |
Drugs That Target Protein |
---|---|---|---|---|
Arginine vasopressin | AVP | NeuNeurons of supraoptic nucleus and paraventricular nucleus | Central diabetes insipidus | None |
Vasopressin receptor | ||||
V2 | AVPR2 | RenRenal thick ascending limb of the loop of Henle, distal convoluted tubule, connecting tubule, collecting duct | X-linked nephrogenic diabetes insipidus | DesmDesmopressin acetate (agonist), tolvap- tan (antagonist) |
V1a | AVPRlA | RenRenal medullary vasculature (vasa recta) | None | Conivaptan (nonselec- tive V1a and V2 antagonist) |
BumeBumetanide-sensitive sodi- um-potassium–chlo–ride cotransporter | SLCl2Al | RenRenal thick ascending limb of the loop of Henle | Type I Bartter’s syndrome | Loop Loopdiuretics |
ThiaziThiazide-sensitive sodium- chloride cotransporter | SLCl2A3 | RenRenal distal convoluted tubule | Gitelman’s syndrome | Thiazide diuretics |
Aquaporin | ||||
Aquaporin-1 | AQPl | Renal proximal tubule, thin descending limb of the loop of Henle, erythrocyte | Colton blood group-null | None |
Aquaporin-2 | AQP2 | RenRenal connecting tubule, collecting duct | Autosomal nephrogenic diabetes insipidus | None |
Aquaporin-3 | AQP3 | RenRenal connecting tubule, collecting duct, erythrocyte | GIL blood group-null | None |
Aquaporin-4 | AQP4 | RenRenal connecting tubule, collecting duct | None | None |
Vasopressin-regulated urea channel | SLCl4A2 | RenRenal inner medullary collecting duct, thin descending limb of the loop of Henle | None | None |
Epithelial sodium channel | ||||
Beta subunit | SCNNlB | RenRenal connecting tubule, collecting duct | Type I pseudohypoaldoster- onism | Amiloride |
Gamma subunit | SCNNlG | RenRenal connecting tubule, collecting duct | Type I pseudohypoaldoster- onism | Amiloride |
Data are from the Online Mendelian Inheritance in Man database.