This gene encodes a water channel protein located in the kidney collecting tubule. It belongs to the MIP/aquaporin family, some members of which are clustered together on chromosome 12q13. Mutations in this gene have been linked to autosomal dominant and recessive forms of nephrogenic diabetes insipidus. [provided by RefSeq, Oct 2008]
Pathway
Aquaporin-mediated transport; Passive transport by Aquaporins; Transmembrane transport of small molecules; Vasopressin regulates renal water homeostasis via Aquaporins; Vasopressin-regulated water reabsorption
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