ANKH

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ANKH inorganic pyrophosphate transport regulator
Identifiers
Symbols ANKH ; ANK; CCAL2; CMDJ; CPPDD; HANK; MANK
External IDs OMIM605145 MGI3045421 HomoloGene10664 GeneCards: ANKH Gene
RNA expression pattern
PBB GE ANKH 220076 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 56172 11732
Ensembl ENSG00000154122 ENSMUSG00000022265
UniProt Q9HCJ1 Q9JHZ2
RefSeq (mRNA) NM_054027 NM_020332
RefSeq (protein) NP_473368 NP_065065
Location (UCSC) Chr 5:
14.7 – 14.87 Mb
Chr 15:
27.47 – 27.59 Mb
PubMed search [1] [2]

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[edit]

  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. ^ a b "Entrez Gene: ANKH ankylosis, progressive homolog (mouse)". 

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