Recombinant Human Progressive ankylosis protein homolog (ANKH), partial

1. Craniometaphyseal dysplasia mutations in ANKH diminish hiPSC differentiation into osteoclasts in vitro. PMID: 29056330
2. our findings demonstrate that the miR-20a/ANKH axis mediates the stiff matrix- promoted CEP calcification, suggesting that miR-20a and ANKH are potential targets in restraining the progression of IDD. PMID: 27142968
3. Results show that ANK localizes to the trans-Golgi network (TGN), clathrin-coated vesicles and the plasma membrane, and is required for endosomal function and endocytosis PMID: 27466194
4. This study validates the association between a functional polymorphism in the 5' UTR of ANKH and Chondrocalcinosis PMID: 24467728
5. Polymorphisms in ALP, ENPP1 and ANKH are important genetic risk factors contributing to Pseudoxanthoma elasticum PMID: 25025693
6. ANK was concentrated around crystal deposits and correlated with markers of chondrocyte hypertrophy. These findings support a role for ANK in CPPD crystal formation in cartilage. PMID: 24293574
7. expression levels of type II collagen, aggrecan, and ANK in endplate chondrocytes of experimental group were lower than that of control group and phosphorylation level of JNK in the experimental group which was higher than that in the control group PMID: 23769559
8. Exploratory tympanotomy might improve the hearing outcome in patients with this syndrome and therefore surgery has a limited audiometric benefit in general PMID: 23726953
9. Analysis of the present CMD family suggested the presence of a maternal mosaicism in an ANKH mutation, and the mother who was mosaic for the ANKH mutation had no apparent clinical or radiological features of CMD. PMID: 23421944
10. The aim of this study was to investigate two mineralization-related genes TNAP and ANKH polymorphisms associated with ankylosing spondylitis (AS) in the North Chinese Han population. PMID: 23612078
11. Neither ANKH nor ENPP1 mutations are the cause of chondrocalcinosis in these Slovakian families. PMID: 21811784
12. TNF-activated NF-kappaB promotes inflammation-accelerated vascular calcification by inhibiting ankylosis protein homolog expression and consequent pyrophosphate secretion. PMID: 22437419
13. We report a novel mutation, not previously described, in ANKH exon 1, wherein serine replaces proline, in a case of early-onset severe calcium pyrophosphate disease associated with metabolic abnormalities, with similar findings in the proband's father PMID: 22647861
14. These results confirm data in white Europeans that ANKH is probably not a major determinant of susceptibility to ankylosing spondylitis. PMID: 22089454
15. in a cohort study of candidate genes and BMD, a few modest associations were observed between SNPs in or near ALPL and several bone traits, but no association was observed with ANKH PMID: 19888898
16. Two novel 18 and 12 base pair in-frame deletions are the largest ANKH mutations causing craniometaphyseal dysplasia identified to date. PMID: 22150416
17. the relationship between the type of temporomandibular disorders (TMD) and ANKH polymorphisms PMID: 22003394
18. Phe377del mutation in ANK causes impaired osteoblastogenesis and osteoclastogenesis resulting in hypomineralization and a high bone mass phenotype. PMID: 21149338
19. The ANKH gene was associated with all four studied obesity-related traits, body mass index (BMI), the waist-hip ratio (WHR), the epidermal growth factor receptor (EGFR), and leptin (P<0.0184), and its effects were modulated by sex. PMID: 20231843
20. We describe the first human progressive ankylosis phenotype and our results indicate that ANK influences articular soft tissues commonly involved in degenerative joint disorders. also, we provide the first direct evidence for a role of ANK in the CNS. PMID: 20943778
21. Following the degeneration of cartilaginous endplate, the intervertebral disc degeneration worsened and the expression level of ANK decreased in vertebral endplate chondrocytes. PMID: 20646567
22. Three novel mutations in ANKH in simplex patients with craniometaphyseal dysplasia, are reported. PMID: 20358596
23. Mutations in ANKH cause chondrocalcinosis PMID: 12297987
24. Autosomal dominant familial calcium pyrophosphate dihydrate deposition disease is caused by mutation in the transmembrane protein ANKH. PMID: 12297989
25. ANKH-OR and ANKH-TR are novel genetic markers that are significantly associated with ankylosing spondylitis. PMID: 12632434
26. ANKH gene is found in patients with familial calcium pyrophosphate deposition disease. PMID: 12707589
27. haplotypes among the 3 families with P5 mutations suggest the mutations arose independently and the evolutionarily conserved P5 position of ANKH may be a hot spot for mutation in families with autosomal-dominant calcium pyrophosphate deposition disease. PMID: 13130483
28. ANKH is not significantly involved in susceptibility to or clinical manifestations of ankylosing spondylitis. PMID: 14558096
29. Numerous ANKH gene mutations cause familial calcium pyrophosphate dihydrate deposition disease; they enhance ANKH protein activity, elevating extracellular pyrophosphate levels and promoting formation of pyrophosphate crystals. Review. PMID: 15474385
30. ANKH may be a candidate gene affecting bone size and geometry variation, and thus may be relevant for osteoporosis fracture risk. PMID: 15780964
31. Some cases of apparently sporadic chondrocalcinosis are caused by polymorphisms of the ankh gene. PMID: 15818664
32. Data showed significant associations of ANKH gene polymorphisms with body weight and height, limb length. PMID: 16724232
33. ANKH genetic polymorphisms in the area between SNP rs2291943 and rs2288474 are strongly associated with OPG plasma levels. PMID: 17147692
34. mutations in ANKH cause human skeletal disease PMID: 17186460
35. examined whether nine single nucleotide polymorphisms (SNPs) in ANKH-one of the key genetic factors involved in bone mineralization-can be associated with PTH and BGP levels PMID: 17403715
36. Cuff tear arthropathy is associated with variants in ANKH and TNAP that alter extracellular inorganic pyrophosphate concentrations causing calcium crystal deposition. PMID: 17563703
37. These results revealed a novel function of ANKH in the promotion of early erythroid differentiation and that ank/ank mice have lower serum levels of Epo than the normal littermates, and this is the likely cause of microcytosis in these mutant mice. PMID: 17950726
38. The present study examines the possible phenotype-haplotype specificity of the associations in osteoprotegerin and parathyroid hormone gene regions. PMID: 18821330
39. Our results suggested that there is a coordinated interrelationship between 2 key participants of Pi and PPi metabolism, ANKH and PiT-1. PMID: 19369455
40. ANK expression and function in vitro and in vivo are repressed in hypoxic environments and that the effect is regulated by HIF-1. PMID: 19419319
41. Craniometaphyseal dysplasia and chondrocalcinosis cosegregating in a family with an ANKH mutation are reported. PMID: 19449425
42. ANKH is associated with infantile epilepsy in a large family showing complete co-segregation of seizures and chondrocalcinosis. PMID: 15461680
43. ANKH is upregulated by androgen in the LNCaP prostate cell line. PMID: 12185249

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HGNC: 15492

OMIM: 118600

KEGG: hsa:56172

STRING: 9606.ENSP00000284268

UniGene: Hs.156727