ANKH

Ankylosis, progressive homolog (mouse), also known as ANKH, is a human gene.cite web | title = Entrez Gene: ANKH ankylosis, progressive homolog (mouse)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=56172| accessdate = ]

PBB_Summary
section_title =
summary_text = 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.cite web | title = Entrez Gene: ANKH ankylosis, progressive homolog (mouse)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=56172| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Williams CJ |title=Familial calcium pyrophosphate dihydrate deposition disease and the ANKH gene. |journal=Current opinion in rheumatology |volume=15 |issue= 3 |pages= 326–31 |year= 2003 |pmid= 12707589 |doi=
*cite journal | author=Netter P, Bardin T, Bianchi A, "et al." |title=The ANKH gene and familial calcium pyrophosphate dihydrate deposition disease. |journal=Joint Bone Spine |volume=71 |issue= 5 |pages= 365–8 |year= 2005 |pmid= 15474385 |doi= 10.1016/j.jbspin.2004.01.011
*cite journal | author=Maruyama K, Sugano S |title=Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. |journal=Gene |volume=138 |issue= 1-2 |pages= 171–4 |year= 1994 |pmid= 8125298 |doi=
*cite journal | author=Hughes AE, McGibbon D, Woodward E, "et al." |title=Localisation of a gene for chondrocalcinosis to chromosome 5p. |journal=Hum. Mol. Genet. |volume=4 |issue= 7 |pages= 1225–8 |year= 1996 |pmid= 8528213 |doi=
*cite journal | author=Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, "et al." |title=Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library. |journal=Gene |volume=200 |issue= 1-2 |pages= 149–56 |year= 1997 |pmid= 9373149 |doi=
*cite journal | author=Nürnberg P, Tinschert S, Mrug M, "et al." |title=The gene for autosomal dominant craniometaphyseal dysplasia maps to chromosome 5p and is distinct from the growth hormone-receptor gene. |journal=Am. J. Hum. Genet. |volume=61 |issue= 4 |pages= 918–23 |year= 1997 |pmid= 9382103 |doi=
*cite journal | author=Andrew LJ, Brancolini V, de la Pena LS, "et al." |title=Refinement of the chromosome 5p locus for familial calcium pyrophosphate dihydrate deposition disease. |journal=Am. J. Hum. Genet. |volume=64 |issue= 1 |pages= 136–45 |year= 1999 |pmid= 9915952 |doi=
*cite journal | author=Rojas K, Serrano de la Peña L, Gallardo T, "et al." |title=Physical map and characterization of transcripts in the candidate interval for familial chondrocalcinosis at chromosome 5p15.1. |journal=Genomics |volume=62 |issue= 2 |pages= 177–83 |year= 2000 |pmid= 10610710 |doi= 10.1006/geno.1999.5997
*cite journal | author=Ho AM, Johnson MD, Kingsley DM |title=Role of the mouse ank gene in control of tissue calcification and arthritis. |journal=Science |volume=289 |issue= 5477 |pages= 265–70 |year= 2000 |pmid= 10894769 |doi=
*cite journal | author=Nagase T, Kikuno R, Nakayama M, "et al." |title=Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. |journal=DNA Res. |volume=7 |issue= 4 |pages= 273–81 |year= 2001 |pmid= 10997877 |doi=
*cite journal | author=Nürnberg P, Thiele H, Chandler D, "et al." |title=Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia. |journal=Nat. Genet. |volume=28 |issue= 1 |pages= 37–41 |year= 2001 |pmid= 11326272 |doi= 10.1038/88236
*cite journal | author=Reichenberger E, Tiziani V, Watanabe S, "et al." |title=Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK. |journal=Am. J. Hum. Genet. |volume=68 |issue= 6 |pages= 1321–6 |year= 2001 |pmid= 11326338 |doi=
*cite journal | author=Nelson PS, Clegg N, Arnold H, "et al." |title=The program of androgen-responsive genes in neoplastic prostate epithelium. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 18 |pages= 11890–5 |year= 2002 |pmid= 12185249 |doi= 10.1073/pnas.182376299
*cite journal | author=Pendleton A, Johnson MD, Hughes A, "et al." |title=Mutations in ANKH cause chondrocalcinosis. |journal=Am. J. Hum. Genet. |volume=71 |issue= 4 |pages= 933–40 |year= 2002 |pmid= 12297987 |doi=
*cite journal | author=Williams CJ, Zhang Y, Timms A, "et al." |title=Autosomal dominant familial calcium pyrophosphate dihydrate deposition disease is caused by mutation in the transmembrane protein ANKH. |journal=Am. J. Hum. Genet. |volume=71 |issue= 4 |pages= 985–91 |year= 2002 |pmid= 12297989 |doi=
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Tsui FW, Tsui HW, Cheng EY, "et al." |title=Novel genetic markers in the 5'-flanking region of ANKH are associated with ankylosing spondylitis. |journal=Arthritis Rheum. |volume=48 |issue= 3 |pages= 791–7 |year= 2003 |pmid= 12632434 |doi= 10.1002/art.10844
*cite journal | author=Clark HF, Gurney AL, Abaya E, "et al." |title=The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. |journal=Genome Res. |volume=13 |issue= 10 |pages= 2265–70 |year= 2003 |pmid= 12975309 |doi= 10.1101/gr.1293003
*cite journal | author=Williams CJ, Pendleton A, Bonavita G, "et al." |title=Mutations in the amino terminus of ANKH in two US families with calcium pyrophosphate dihydrate crystal deposition disease. |journal=Arthritis Rheum. |volume=48 |issue= 9 |pages= 2627–31 |year= 2003 |pmid= 13130483 |doi= 10.1002/art.11133

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