Gene Symbol | ANKH |
Entrez Gene ID | 56172 |
Full Name | ANKH inorganic pyrophosphate transport regulator |
Synonyms | ANK,CCAL2,CMDJ,CPPDD,HANK,MANK,SLC62A1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Craniometaphyseal dysplasia, 123000 (3); Chondrocalcinosis 2, 118600 (3) |