ANKH( Human )

Entrez Gene 56172 Entrez Gene 56172
ANKH inorganic pyrophosphate transport regulator

Alias

ANK|CCAL2|CMDJ|CPPDD|HANK|MANK

This gene encodes a multipass transmembrane protein that is expressed in joints and other tissues and controls pyrophosphate levels in cultured cells. Progressive ankylosis-mediated control of pyrophosphate levels has been suggested as a possible mechanism regulating tissue calcification and susceptibility to arthritis in higher animals. Mutations in this gene have been associated with autosomal dominant craniometaphyseal dysplasia. [provided by RefSeq, Jul 2008].

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