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.
Pathway
Aquaporin-mediated transport, organism-specific biosystem; Passive Transport by Aquaporins, organism-specific biosystem; Regulation of Water Balance by Renal Aquaporins, organism-specific biosystem; Transmembrane transport of small molecules, organism-specific biosystem; Vasopressin-regulated water reabsorption, organism-specific biosystem; Vasopressin-regulated water reabsorption, conserved biosystem;
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