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AQP2 Geneaquaporin 2 (collecting duct) 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] |
MNDEC GeneMicrotia with nasolacrimal duct imperforation and eye coloboma |