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ANKH is 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.
Gene Name: | ANKH inorganic pyrophosphate transport regulator |
Synonyms: | ANKH, CMDJ, CPPDD, HANK, KIAA1581, ANK, MANK, CCAL2 |
Target Sequences: | NM_054027 NP_473368.1 Q9HCJ1 |
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