ANKH

From Wikipedia, the free encyclopedia

Ankylosis, progressive homolog (mouse)

Identifiers

ANKH; ANK; CCAL2; CMDJ; CPPDD; FLJ27166; HANK; MANK

External IDs

OMIM: 605145 MGI: 3045421 HomoloGene: 10664

Gene ontology
Molecular Function:	• inorganic phosphate transmembrane transporter activity • phosphate transmembrane transporter activity • inorganic diphosphate transmembrane transporter activity
Cellular Component:	• integral to plasma membrane • membrane • integral to membrane • outer membrane
Biological Process:	• skeletal development • transport • phosphate transport • sensory perception of sound • locomotory behavior • regulation of bone mineralization

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

XM_001132013 (mRNA)
XP_001132013 (protein)

NM_020332 (mRNA)
NP_065065 (protein)

Location

Chr 5: 14.76 - 14.93 Mb

Chr 15: 27.41 - 27.54 Mb

Pubmed search

[1]

[2]

Ankylosis, progressive homolog (mouse), also known as ANKH, is a human gene.^[1]

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.^[1]

[edit] References

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

[edit] Further reading

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