ANKH explained

Progressive ankylosis protein homolog (ANK ilosis H omolog) 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]

External links

• GeneReviews/NCBI/NIH/UW entry on Craniometaphyseal Dysplasia

Further reading

• Williams CJ . Familial calcium pyrophosphate dihydrate deposition disease and the ANKH gene. . Current Opinion in Rheumatology . 15 . 3 . 326–31 . 2003 . 12707589 . 10.1097/00002281-200305000-00023 . 24811510 .
• Netter P, Bardin T, Bianchi A . The ANKH gene and familial calcium pyrophosphate dihydrate deposition disease. . Joint Bone Spine . 71 . 5 . 365–8 . 2005 . 15474385 . 10.1016/j.jbspin.2004.01.011 . etal.
• Maruyama K, Sugano S . Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. . Gene . 138 . 1–2 . 171–4 . 1994 . 8125298 . 10.1016/0378-1119(94)90802-8 .
• Hughes AE, McGibbon D, Woodward E . Localisation of a gene for chondrocalcinosis to chromosome 5p. . Hum. Mol. Genet. . 4 . 7 . 1225–8 . 1996 . 8528213 . 10.1093/hmg/4.7.1225 . etal.
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K . Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library. . Gene . 200 . 1–2 . 149–56 . 1997 . 9373149 . 10.1016/S0378-1119(97)00411-3 . etal.
• Nürnberg P, Tinschert S, Mrug M . The gene for autosomal dominant craniometaphyseal dysplasia maps to chromosome 5p and is distinct from the growth hormone-receptor gene. . Am. J. Hum. Genet. . 61 . 4 . 918–23 . 1997 . 9382103 . 10.1086/514880 . 1716005 . etal.
• Andrew LJ, Brancolini V, de la Pena LS . Refinement of the chromosome 5p locus for familial calcium pyrophosphate dihydrate deposition disease. . Am. J. Hum. Genet. . 64 . 1 . 136–45 . 1999 . 9915952 . 10.1086/302186 . 1377711 . etal.
• Rojas K, Serrano de la Peña L, Gallardo T . Physical map and characterization of transcripts in the candidate interval for familial chondrocalcinosis at chromosome 5p15.1. . Genomics . 62 . 2 . 177–83 . 2000 . 10610710 . 10.1006/geno.1999.5997 . etal.
• Nagase T, Kikuno R, Nakayama M . 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. . DNA Res. . 7 . 4 . 273–81 . 2001 . 10997877 . 10.1093/dnares/7.4.271. etal. free .
• Nürnberg P, Thiele H, Chandler D . Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia. . Nat. Genet. . 28 . 1 . 37–41 . 2001 . 11326272 . 10.1038/88236 . etal.
• Reichenberger E, Tiziani V, Watanabe S . Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK. . Am. J. Hum. Genet. . 68 . 6 . 1321–6 . 2001 . 11326338 . 10.1086/320612 . 1226118 . etal.
• Nelson PS, Clegg N, Arnold H . The program of androgen-responsive genes in neoplastic prostate epithelium. . Proceedings of the National Academy of Sciences of the United States of America . 99 . 18 . 11890–5 . 2002 . 12185249 . 10.1073/pnas.182376299 . 129364 . 2002PNAS...9911890N . etal. free .
• Pendleton A, Johnson MD, Hughes A . Mutations in ANKH cause chondrocalcinosis. . Am. J. Hum. Genet. . 71 . 4 . 933–40 . 2002 . 12297987 . 10.1086/343054 . 378546 . etal.
• Strausberg RL, Feingold EA, Grouse LH . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. . Proceedings of the National Academy of Sciences of the United States of America . 99 . 26 . 16899–903 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . etal. free .
• Tsui FW, Tsui HW, Cheng EY . Novel genetic markers in the 5'-flanking region of ANKH are associated with ankylosing spondylitis. . Arthritis Rheum. . 48 . 3 . 791–7 . 2003 . 12632434 . 10.1002/art.10844 . etal.
• Clark HF, Gurney AL, Abaya E . The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. . Genome Res. . 13 . 10 . 2265–70 . 2003 . 12975309 . 10.1101/gr.1293003 . 403697 . etal.
• Williams CJ, Pendleton A, Bonavita G . Mutations in the amino terminus of ANKH in two US families with calcium pyrophosphate dihydrate crystal deposition disease. . Arthritis Rheum. . 48 . 9 . 2627–31 . 2003 . 13130483 . 10.1002/art.11133 . etal.

Notes and References

1. Ho AM, Johnson MD, Kingsley DM . Role of the mouse ank gene in control of tissue calcification and arthritis . Science . 289 . 5477 . 265–70 . Jul 2000 . 10894769 . 10.1126/science.289.5477.265 . 2000Sci...289..265H .
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 . 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 . Sep 2002 . 12297989 . 419998 . 10.1086/343053 .
3. Web site: Entrez Gene: ANKH ankylosis, progressive homolog (mouse).