Human Transcobalamin-2(TCN2) ELISA kit

1. 12 articles were included in this study. The pooled results did not reveal a significant association of the MTRR A66G polymorphism (G vs. A: OR = 0.99, 95% CI = 0.82-1.18, p = 0.72) with Nonsyndromic Cleft Lip With or Without Cleft Palate risk PMID: 30004262
2. The findings of the present case-control study did not support an association between the TCN2 rs1801198 and TCN2R rs2336573 polymorphisms and the risk of recurrent spontaneous abortion in a sample of the Iranian population. PMID: 29537328
3. Genotypes of transcobalamin 2 (TCN2) rs1801198, methionine synthase (MTR) rs1805087, methionine synthase reductase (MTRR) rs1801394, and methylene tetrahydrofolate reductase (MTHFR) rs1801133 were examined in 201 children with Autism Spectrum Disorder and 200 healthy controls from the Han Chinese population. Our results showed no association of all examined SNPs with childhood ASD and its severity. PMID: 29348398
4. Proteomics analysis of glioblastoma cell line under hypoxia identified B12 transporter protein TCN2, which is essential for one-carbon metabolism, as being significantly downregulated. TCN2 downregulation seems to play an important role in controlling cell transformation to a highly aggressive mesenchymal/cancer stem cell (CSC), whereas high expression of TCN2 can reverse it. PMID: 28874504
5. TCN2 (rs1801198, rs9606756) variations, as well as serum levels of Hcy, vitamin B12 and folate, are correlated with ulcerative colitis. PMID: 28981944
6. tagSNPs in MTHFR, MTR, MTRR, and TCN2 were not associated with NSCLP in our study, but continued exploration, including allele frequency of various populations and molecular mechanism of the gene-gene interactions of the genes, may provide additional insight into NSCLP. PMID: 25105440
7. TCN2 (rs1801198, rs9606756) polymorphisms as well as folate deficiency and vitamin B12 deficiency are correlated with Crohn's disease. PMID: 28472811
8. The rs9606756[c.67A>G,p.Ile23Val] variant from TCN2 was associated with waist circumference (WC) at nearly genome-wide significance (P = 8.92E-08). PMID: 28417558
9. TC deficiency has a wide heterogeneity in clinical phenotype, genotype, laboratory, and radiologic findings. Early detection of the disease and early initiation of aggressive parenteral treatment is probably associated with better prognosis and disease control. PMID: 28538514
10. Meta-analysis results indicate an influence of rs1801198 on holotranscobalamin and homocysteine concentrations in European-descent subjects. PMID: 28814397
11. TCN2 polymorphism is associated with ulcerative colitis. PMID: 28526947
12. A novel homozygous mutation (c.1106+1516_1222+1231del) was detected in 7 patients from 5 families. A 5304-bp deletion that begins 1516 bp into intron 7 and ends 1231 bp into intron 8 was observed. The deletion includes all of exon 8 and causes a frameshift to produce a premature stop of 4 codons into the new reading frame (counting ATG as 1). PMID: 27824740
13. The association of the TCN2 polymorphism with peripheral neuropathy was independent of vitamin B-12 intake. PMID: 27733392
14. G/G homozygosity of C776G TC2 and the C/G genotype of the C776G TC2 genegene polymorphism increases the risk of oral cancer PMID: 28155977
15. The mutation does not seem to interfere with the function of TC, but the mutation may well explain the low level of holoTC detected by the Abbott assay. The results underscores that mutations of TCN2 have to be considered when implausible holoTC results are obtained. PMID: 27155006
16. 4 patients with transcobalamin II deficiency were found to have novel mutations, of whom 2 had the same large deletion (homozygous c.1106+1516-1222+1231del). One had c.1107- 347_1222+981delin 364. Another had homozygous c.106C>T. (Q36X). PMID: 25914105
17. There were no other associations between single -nucleotide polymorphisms and the efficacy of MTX treatment. CONCLUSIONS: The MTHFR 677CC and GGH 401TT and CT genotypes were associated with a reduction in the number of MTX-related adverse events. PMID: 25599563
18. Report TCN2 mutations causing transcobalamin deficiency in an Indian patient. PMID: 25947267
19. Although not significant when corrected for multiple testing, eight single nucleotide polymorphisms (SNPs) in two genes, transcobalamin II (TCN2) and the transcobalamin II-receptor (TCblR), were found to influence several clinical traits of cobalamin deficiency. PMID: 25657319
20. In Asian populations, the investigated polymorphisms mapping at TCN2 and CBS genes did not provide any evidence of association with cleft lip/cleftpalate. PMID: 26540672
21. TCN2 776C --> G polymorphism is negatively associated with Alzheimer's type dementia, suggesting a protective role against the disease in subjects with the 5, 10-methylenetetrahydrofolate reductase 1298AA genotype PMID: 25395544
22. Transcobalamin II (TCN2 67A>G and TCN2 776C>G) and transcobalamin II receptor (TCblR 1104C>T) polymorphisms in Korean patients with idiopathic recurrent spontaneous abortion PMID: 24750446
23. neither MTHFD G1958A nor TC C776G polymorphisms are an independent risk factor for Down syndrome. However, the combined MTHFD/MTHFR, TC/MTHFR genotypes play a role in the risk of bearing a Down syndrome child in the Chinese population. PMID: 24668664
24. Report TCN2 mutations causing transcobalamin deficiency in a family. PMID: 20607612
25. Proliferating cancer cells express measurable levels of TCII and TCII-R. PMID: 24122983
26. haplotype association analysis revealed a significant association between idiopathic pulmonary fibrosis and transcobalamin II gene polymorphisms PMID: 23089108
27. observation suggests that the missense variant Tc2. 776C>G influences both neurotoxicity and efficacy of methotrexate in patients with primary central nervous system lymphoma PMID: 23099805
28. preliminary results indicate that transcobalamin 2 gene polymorphisms can be a susceptibility factor for colorectal cancer PMID: 22794911
29. Three SNPs in transcobalamin II gene (G1196A, C776G and C1043T) are significantly associated with coronary artery disease in Indian population. PMID: 22188304
30. Holotranscobalamin meaesurement does not show superior diagnostic accuracy compared to vitamin B12 for the detection of vitamin B12 deficiency in subjects with neuropsychiatric conditions. PMID: 20890610
31. Maternal 776C>G polymorphism in TCN2 was strongly predictive of NTD in the offspring (p = 0.006). PMID: 21770021
32. Variation in the TCN2 gene also affects recurrent stroke risk in response to cofactor therapy PMID: 21975197
33. genetic association studies in adult populations in Norway: Serum holoTC concentration (but not other indicators of cobalamin status) is lower in TCN2 67AG or 67GG than in 67AA but did not differ among TCN2 776C>G genotypes. PMID: 21865561
34. The TCN2 776C>G polymorphism may contribute to the risk of pathologies associated with a low B(12), and high tHcy phenotype. PMID: 20808328
35. structural change of TCII induced by single nucleotide polymorphism PMID: 21214274
36. The G allele of Tc2 c.776C -> G was associated with with higher LDL plasma levels, lower HDL plasma levels, higher triglyceride plasma levels, and higher TC levels. PMID: 20948192
37. The association between vitamin B12 and homocysteine concentrations is modified by TC 776 genotype in older Latinos. PMID: 20216556
38. Data show that the TCN2 776CNG genotype exerts a significant influence upon B(12) cellular delivery. PMID: 20144600
39. these exploratory data provide suggestive evidence for the association of MTHFR 429 Ala/ Ala and TCN2 259 Arg/Arg and CIMP status in colorectal cancer PMID: 19936946
40. Single nucleotide polymorphisms in transcobalamin II gene is associated with mesothelioma. PMID: 19546821
41. Using MMA as a marker for vitamin B12, these results suggest that TCN2 gene variants may lead to decreased vitamin B12 availability, leading to reduced energy metabolism, ultimately contributing to frailty pathology. PMID: 20082058
42. molecular basis for TCN2 deficiency in two patients with megaloblastic anemia was identified as variance in RNA editing PMID: 12064907
43. determined the influence of TCII genotype on indices of B12 status, including total serum B12, the amount of B12 bound to TCII (holoTCII), methylmalonic acid, and homocysteine PMID: 12091374
44. Transcobalamin II expression is regulated by transcription factor(s) binding to a hexameric sequence (TGGTCC) in the promoter region. PMID: 12413492
45. optimal binding of Cbl by human TC II is supported by disulfide bonds C98-C291 and C147-C187 and that their disruption results in loss of cobalamin binding and their rapid degradation by the proteasomal machinery. PMID: 12660150
46. TCN2 776C>G does not influence holo-Transcobalamin II or vitamin B12 levels, and has no major effect on tHcy concentrations of end-stage renal disease patients. PMID: 12911562
47. Heterozygosity or homozygosity for TCN2 776C>G was not associated with plasma levels of vitamin B, folate, and total homocysteine levels in kidney transplant patients. PMID: 15086930
48. Six common polymorphisms in the TCII gene do not strongly influence risk of neural tube defects in an Irish population. PMID: 15782407
49. transcobalamin 2 is involved in the onset of non-syndromic cleft lip with or without cleft palate PMID: 16470748
50. The results, if confirmed in other populations, highlight the necessity for investigation of the transcobalamin II C776G polymorphism in the research for hyperhomocysteinemia risk factors. PMID: 16820193

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HGNC: 11653

OMIM: 275350

KEGG: hsa:6948

STRING: 9606.ENSP00000215838

UniGene: Hs.417948