ANKH

From Wikipedia, the free encyclopedia
Jump to: navigation, search
ANKH
Identifiers
Aliases ANKH, ANK, CCAL2, CMDJ, CPPDD, HANK, MANK, ANKH inorganic pyrophosphate transport regulator
External IDs MGI: 3045421 HomoloGene: 10664 GeneCards: ANKH
RNA expression pattern
PBB GE ANKH 220076 at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_054027

NM_020332

RefSeq (protein)

NP_473368

NP_065065.3
NP_065065

Location (UCSC) Chr 5: 14.7 – 14.87 Mb Chr 15: 27.47 – 27.59 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Progressive ankylosis protein homolog is a protein that in humans is encoded by the ANKH gene.[3][4][5]

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.[5]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ 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. 
  4. ^ 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 419998Freely accessible. PMID 12297989. 
  5. ^ a b "Entrez Gene: ANKH ankylosis, progressive homolog (mouse)". 

External links[edit]

Further reading[edit]