Description
Product Characteristics:
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. Belongs to the MIP/aquaporin (TC 1.A.8) family.
Subcellular location: Cytoplasm, Cell membrane
Synonyms: ADH water channel, AQP 2, AQP CD, AQP2, AQPCD, Aquaporin 2 collecting duct, Aquaporin CD, Aquaporin2, Aquaporine 2, Collecting duct water channel protein, MGC34501, Water channel protein for renal collecting duct, WCH CD, WCHCD.
Target Information: 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]