|Human Homolog||ANKH, ANKH inorganic pyrophosphate transport regulator|
|NCBI Gene ID||56172|
|Human Synonyms||ANK, CCAL2, CMDJ, CPPDD, HANK, MANK|
|Human Chr (Location)||5p15.1; chr5:14704800-14871778 (-) GRCh38|
|Disease Associations||(2) Diseases Associated with Human ANKH|
Homozygous mutant animals exhibit joint stiffness due to increased calcium deposits in calcified cartilages and die prematurely. Hyperostosis of craniofacial bones and the mandible has been reported in other mutants as well.
|Process||anion transmembrane transport, inorganic diphosphate transport, ...|
|Component||integral component of membrane, integral component of plasma membrane, ...|
|Function||inorganic diphosphate transmembrane transporter activity, inorganic phosphate transmembrane transporter activity, ...|
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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