Human Protein-glutamine gamma-glutamyltransferase K(TGM1) ELISA kit

1. p.Ile140Met, p.Pro184Ser, p.Gly357Asp mutations pathogenic PMID: 26990434
2. We also reveal that TGM1 modulates lung epithelial junction protein expression, suggesting a potentially protective role for hypoxia-induced TGM1 in pulmonary disease. PMID: 27423780
3. A novel TGM1 variant c.1085T>G was found in an Emirati family. The mutation causes a nonsynonymous protein change (p.Leu362Arg) that affects a highly conserved residue in the catalytic core domain of the calcium-dependent transglutaminase-1. PMID: 28236338
4. that the up-regulation of molecular signatures for antimicrobial and innate defense responses is characteristic of skin with a transglutaminase 1 deficiency. PMID: 27442430
5. Seven of 10 probands with a compound heterozygous TGM1 genotype had a mutation at either arginine 307 or 315, providing evidence that mutations at these sites are temperature sensitive and highlighting the importance of these residues in the pathogenesis of bathing suit ichthyosis PMID: 28403434
6. The results strongly supported the participation of TGM1 in the regulation of gastric cancer development. The s found evidence that the mechanism of action of TGM1 in regulating gastric cancer cell might involve the Wnt signaling pathway, as loss of TGM1 expression in gastric cancer cells led to a significant suppression of Wnt signaling activities. PMID: 27660242
7. we identified three novel mutations and one reported mutation in the TGM1 and ABCA12 genes, respectively, in affected siblings of five Saudi unrelated families. PMID: 27061915
8. As a further application of the substrate peptide, several substrate candidates of TG1 that may be essential for cornified envelope formation were identified and characterized. PMID: 27416753
9. Data indicate a decrease in transglutaminases TG1 and TG3 transcripts by about 70% in foreskins from patients with balanitis xerotica obliterans (BXO) BXO in comparison with patients without BXO and an increase in transglutaminase TG2 mRNA levels by 2.9 fold. PMID: 27649154
10. In summary, we have identified three novel sequence variants, one in TGM1 and two in ALOXE3, in three consanguineous families segregating lamellar ichthyosis and congenital ichthyosiform erythroderma types of autosomal recessive congenital ichthyosis. PMID: 26578203
11. Our results thus indicated that the TGM1 mutation affects the formation of corni fi ed cell envelope by multiple mechanisms and leads to an almost identical clinical phenotype of generalized erythema and scales. PMID: 26220141
12. Two siblings with autosomal recessive congenital ichthyosis, were found to carry a novel aetiological TGM1 mutation that leads to the synthesis of multiple abnormal transcripts. PMID: 25754682
13. mRNA expression of transglutaminase 1 and transglutaminase 3 was significantly decreased in patients with chronic periodontitis compared with a healthy control group. PMID: 24112124
14. In this study, we found that 14 different TGM1 mutations have been identified and reported in 13 individuals with ARCI from 8 families with congental ichthyosis, comprising 9 missense mutations, 1 deletion and 1 splice-site mutation . PMID: 25154629
15. Structure-function implication on a novel homozygous Trp250/Gly mutation of transglutaminase-1 (TGM1) observed in a patient of autosomal recessive congenital ichthyosis is invoked from a bioinformatics analysis. PMID: 25180191
16. IgA-anti-TG1 antibodies were found in 2% and IgA-anti-TG3 antibodies in 3% of patients with active atopic dermatitis (AD). Two out of the 5 patients with AD and concomitant celiac disease had IgA-anti-TG1 and IgA-anti-TG2 antibodies. PMID: 24885370
17. All mutations, except a novel deletion of a single nucleotide in exon 13 (c.2149delC), have been reported previously in lamellar ichthyosis. PMID: 24261627
18. Most of the mutations we identified in 20 israeli families with autosomal recessive congenital ichthyosis were located within the coding sequence of the TGM1 gene PMID: 23621129
19. We add a Korean case of genetically identified autosomal recessive congenital icthyosis, confirmed by the presence of compound heterozygous mutations in the TGM1 gene. PMID: 24314425
20. analysis of a case of mild lamellar ichthyosis with compound heterozygous TGM1 mutations including the novel missense mutation p.Leu693Phe [case report] PMID: 23895935
21. Two known pathogenic TGM1 mutations were detected in three large consanguineous Omani families with lamellar ichthyosis PMID: 23689228
22. Congenital lamellar ichthyosis in Tunisia is caused by a founder nonsense mutation in the TGM1 gene. PMID: 23192619
23. TGM1 mutation spectra in Italian and Portuguese patients with autosomal recessive congenital ichthyosis. PMID: 23278109
24. FATP4, ichthyin and TGM1 interact in lipid processing essential for maintaining the epidermal barrier function PMID: 23290633
25. GGT may have a role in change in body mass index but not in waist cirumference PMID: 22972431
26. TG1 and TG2 isoenzymes are highly active with the major activity attributed to TG1 in human saliva. PMID: 22080209
27. Two transition/transversion (R37G, V112A), two nonsense mutations and two putative splice site of TGM1 are associated with lamellar ichthyosis. PMID: 23096117
28. Genetic variation in the epidermal transglutaminase genes is not associated with atopic dermatitis. PMID: 23189155
29. Autosomal recessive congenital ichthyosis patients with ALOX12B mutations and abnormal 12R-LOX expression, the colocalization signal for eLOX-3 and TGM1 was increased 4-fold. PMID: 22622417
30. These findings confirm the hypothesis that only a restricted spectrum of TGM1 mutations leads to a bathing suit ichthyosis and/or a self-improving collodion ichthyosis phenotype. PMID: 22801880
31. Two mutations of the TGM1 gene,c.2278C>T and c.1223_1227delACACA which are observed in high frequency in Galician patients with autosomal recessive congenital ichthyosis, were most likely founded in the Galician territory instead of being brought here by migrants. PMID: 22511925
32. beta-actin is a target for the activity of recombinant human transglutaminase 1 in cultured chick telecephalon cell cultures. PMID: 21789544
33. Our splicing assay, together with bioinformatic prediction tools, supports the pathological effect of the recently identified c.984+1G>A mutation in the TGM1 gene and unravels the molecular mechanism by which c.984+1G>A acts. PMID: 22435431
34. TGM1 genotypes of the family were used to determine parental origins of the mutations. PMID: 22311480
35. Transglutaminase in epidermis and neurological disease. PMID: 22220473
36. We conclude that TG1-catalysed cross-linking, regulated by TIG3, might play an important role in the formation of neuronal tau inclusions in certain tauopathies PMID: 22009441
37. TG1-catalyzed cross-linking and consequent polymerization of cytoskeletal and cytoskeleton-associated proteins may underlie corpora amylacea formation. PMID: 19464759
38. Transglutaminase1 and its preferred substrate peptide K5 have a role in lamellar ichthyosis PMID: 20167857
39. misfolding of TG1 mutants leads to ubiquitinylation and accumulation in the ER and aggresomes, and that abnormal intracellular processing of TG1 mutants may be an underlying cause of ichthyosis. PMID: 20663883
40. four novel mutations in TGM1 gene result in decrease or absence of TGase activity in the skin and, as a consequence, cause the phenotype of autosomal recessive lamellar ichthyosis PMID: 19486042
41. Mutations are closely related to previously described ones in bathing suit ichthyosis and self-healing collodion baby variants of lamellar ichthyosis and clustered in exons 5, 6 and 7 of TMG1 PMID: 19863506
42. findings identify tissue transglutaminase as a key participant in an EGFR/Src-signaling pathway in breast-cancer cells and a potential target for inhibiting EGFR-promoted tumor progression. PMID: 20080707
43. ALOX12B mutations are the leading cause of self-improving collodion ichthyosis in Scandinavia, followed by ALOXE3 mutations, and TGM1 mutations PMID: 19890349
44. proposed that tTGase-mediated cross-linking is an another form of core histone modification and it may play a role of chromatin condensation during erythrocyte differentiation PMID: 12054678
45. This enzyme is expressed in vivo in normal lung, preinvasive bronchial lesions, and lung cancer. PMID: 12654631
46. transglutaminase 1 has a role in keratinocyte terminal differentiation after activation by TIG3 PMID: 12928434
47. LEKTI deficiency in the epidermis and in hair roots at the protein level and an aberrant expression of other proteins, especially transglutaminase1 and 3, which may account for the impaired epidermal barrier in Netherton syndrome PMID: 15304086
48. Treatment of human umbilical vein endothelial cells (HUVEC) with atorvastatin (1-10 microM) caused a clear increased expression of tTgase in both permeabilised and non-permeabilised HUVEC. PMID: 15313180
49. analysis of transglutaminase 1 mutations in autosomal recessive congenital ichthyosis in Egyptian families PMID: 15665393
50. In HEK 293T cell culture, transglutaminase 1 cross-links the N-terminal fragments of mutant huntingtin protein, therefore it could be involved in the cross-linking of huntingtin into intranuclear inclusions in Huntington disease. PMID: 15715085

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HGNC: 11777

OMIM: 190195

KEGG: hsa:7051

STRING: 9606.ENSP00000206765

UniGene: Hs.508950