TGM6 Antibody

1. Results indicate that mutations differently impacting on TG6 function cause neuronal dysfunction and death through diverse mechanisms. PMID: 28934387
2. TGM6 missense mutation cosegregated with AML in a large family. PMID: 24755948
3. Two missense mutations (p.R111C and p.D510H) and one 3-base pair deletion (p.E574del) in TGM6 were identified in Spinocerebellar ataxia 35. PMID: 25253745
4. Whole-exome and targeted sequencing have defined the genetic basis of dizziness including new genes causing ataxia: GBA2, TGM6, ANO10 and SYT14 PMID: 24275721
5. transglutaminase 6 could be involved in polyQ diseases. PMID: 23800413
6. Results indicate a mutation in the transglutaminase 6 (TGM6) gene (c.1528G>C) which showed co-segregation with disease phenotype in all nine members of this family. PMID: 22554020
7. Antibodies against TG6 are gluten-dependent and appear to be a sensitive and specific marker of glten ataxia. PMID: 23576621
8. this study analyzed the subcellular distribution, expression and in vitro activity of two missense mutations of TG6 (D327G, L517W) and found that both mutants exhibited decreased transglutaminase activity and stability. PMID: 23206699
9. Human inter-alpha-inhibitor is a substrate for factor XIIIa and tissue transglutaminase. PMID: 21939789
10. New DNA sequencing technologies are enabling us to investigate the whole or large targeted proportions of the genome in a rapid, affordable, and comprehensive way. Exome and targeted sequencing TMG6 genes causing ataxia. PMID: 22527681
11. TG6 autoantibodies are not gluten-dependent PMID: 21453693
12. findings lend credence to the notion that TG3 and TG6 are involved in the gluten-induced autoimmune responses of dermatitis herpetiformis and gluten ataxia PMID: 20300788
13. The finding of TGM6 as a novel causative gene of spinocerebellar ataxia illustrates whole-exome sequencing of affected individuals from one family PMID: 21106500
14. Antibodies against transglutaminase 6 can serve as marker antibodies to identify a subgroup of patients with gluten sensitivity who may be at risk for development of neurological disease. PMID: 18825674

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HGNC: 16255

OMIM: 613900

KEGG: hsa:343641

STRING: 9606.ENSP00000202625

UniGene: Hs.452039