Girish Mahajan

ANKH

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Species  Human
Entrez  56172
Human  Mouse
Ensembl  ENSG00000154122
ANKH
Aliases  ANKH, ANK, CCAL2, CMDJ, CPPDD, HANK, MANK, ANKH inorganic pyrophosphate transport regulator
External IDs  MGI: 3045421 HomoloGene: 10664 GeneCards: ANKH

Progressive ankylosis protein homolog is a protein that in humans is encoded by the ANKH gene.

This gene encodes a multipass transmembrane protein that is expressed in joints and other tissues and controls pyrophosphate levels in cultured cells. Mutation at the mouse 'progressive ankylosis' (ank) locus causes a generalized, progressive form of arthritis accompanied by mineral deposition, formation of bony outgrowths, and joint destruction. The human homolog is virtually identical to the mouse protein and ANKH-mediated control of pyrophosphate levels has been suggested as a possible mechanism regulating tissue calcification and susceptibility to arthritis in higher animals.

References

ANKH Wikipedia


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