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ANKH

Official Full Name
ANKH inorganic pyrophosphate transport regulator
Organism
Homo sapiens
GeneID
56172
Background
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]
Synonyms
ANK; CMDJ; HANK; MANK; CCAL2; CPPDD; SLC62A1;

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