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Official Full Name
ANKH inorganic pyrophosphate transport regulator
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.
ANKH; ankylosis, progressive homolog (mouse); ankylosis, progressive (mouse) homolog , CCAL2, CMDJ, craniometaphyseal dysplasia, Jackson type (dominant); progressive ankylosis protein homolog; ANK; CPPDD; HANK; Ankylosis progressive homolog (mouse); Ankylosis progressive homolog; CCAL 2; CCAL2; CMDJ; Craniometaphyseal dysplasia Jackson type (dominant); FLJ27166; MANK; OTTHUMP00000115641; ANKH inorganic pyrophosphate transport regulator; progressive ankylosis protein; ankylosis, progressive homolog

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