ANKH

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
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Progressive ankylosis protein homolog is a protein that in humans is encoded by the ANKH gene.[1][2][3]

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.[3]

References

  1. Ho AM, Johnson MD, Kingsley DM (Jul 2000). "Role of the mouse ank gene in control of tissue calcification and arthritis". Science. 289 (5477): 265–70. doi:10.1126/science.289.5477.265. PMID 10894769.
  2. Williams CJ, Zhang Y, Timms A, Bonavita G, Caeiro F, Broxholme J, Cuthbertson J, Jones Y, Marchegiani R, Reginato A, Russell RG, Wordsworth BP, Carr AJ, Brown MA (Sep 2002). "Autosomal dominant familial calcium pyrophosphate dihydrate deposition disease is caused by mutation in the transmembrane protein ANKH". Am J Hum Genet. 71 (4): 985–91. doi:10.1086/343053. PMC 419998. PMID 12297989.
  3. 3.0 3.1 "Entrez Gene: ANKH ankylosis, progressive homolog (mouse)".

External links

Further reading