Aquaporin-2

Definition:

Forms a water-specific channel that provides the plasma membranes of renal collecting duct with high permeability to water, thereby permitting water to move in the direction of an osmotic gradient. Plays an essential role in renal water homeostasis.

References:

[1]. S Sasaki, et al. Cloning, characterization, and chromosomal mapping of human aquaporin of collecting duct. J Clin Invest. 1994 Mar;93(3):1250-6. [Content Brief]

[2]. P M Deen, et al. Requirement of human renal water channel aquaporin-2 for vasopressin-dependent concentration of urine. Science. 1994 Apr 1;264(5155):92-5. [Content Brief]

[3]. A F van Lieburg, et al. Patients with autosomal nephrogenic diabetes insipidus homozygous for mutations in the aquaporin 2 water-channel gene. Am J Hum Genet. 1994 Oct;55(4):648-52. [Content Brief]

[4]. Fabrizio de Mattia, et al. A novel mechanism in recessive nephrogenic diabetes insipidus: wild-type aquaporin-2 rescues the apical membrane expression of intracellularly retained AQP2-P262L. Hum Mol Genet. 2004 Dec 15;13(24):3045-56. [Content Brief]

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