Human Transcobalamin-2(TCN2) ELISA kit

Code CSB-EL023318HU
Size 96T,5×96T,10×96T
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Trial Size 24T ELISA Kit Trial Size (Only USD$150/ kit)
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Product Details

Target Name
transcobalamin II; macrocytic anemia
Alternative Names
D22S676 ELISA Kit; D22S750 ELISA Kit; II ELISA Kit; Macrocytic anemia ELISA Kit; OTTHUMP00000199117 ELISA Kit; OTTHUMP00000199118 ELISA Kit; OTTHUMP00000199119 ELISA Kit; TC ELISA Kit; TC II ELISA Kit; TC II deficiency ELISA Kit; TC-2 ELISA Kit; TC2 ELISA Kit; TCII ELISA Kit; TCN2 ELISA Kit; TCN2 deficiency ELISA Kit; TCO2_HUMAN ELISA Kit; Transcobalamin 2 ELISA Kit; Transcobalamin 2 deficiency ELISA Kit; Transcobalamin II ELISA Kit; Transcobalamin II; macrocytic anemia ELISA Kit; Transcobalamin-2 ELISA Kit; Vitamin B12 binding protein 2 ELISA Kit
Abbreviation
TCN2
Uniprot No.
Species
Homo sapiens (Human)
Sample Types
serum, plasma, tissue homogenates
Detection Range
0.156 ng/mL-10 ng/mL
Sensitivity
0.039 ng/mL
Assay Time
1-5h
Sample Volume
50-100ul
Detection Wavelength
450 nm
Research Area
Signal Transduction
Assay Principle
quantitative
Measurement
Sandwich
Troubleshooting
and FAQs
Storage
Store at 2-8°C. Please refer to protocol.
Lead Time
3-5 working days after you place the order, and it takes another 3-5 days for delivery via DHL or FedEx
Description

This Human TCN2 ELISA Kit was designed for the quantitative measurement of Human TCN2 protein in serum, plasma, tissue homogenates. It is a Sandwich ELISA kit, its detection range is 0.156 ng/mL-10 ng/mL and the sensitivity is 0.039 ng/mL.

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Target Background

Function
(From Uniprot)
Primary vitamin B12-binding and transport protein. Delivers cobalamin to cells.
Gene References into Functions
  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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Involvement in disease
Transcobalamin II deficiency (TCN2 deficiency)
Subcellular Location
Secreted.
Protein Families
Eukaryotic cobalamin transport proteins family
Database Links

HGNC: 11653

OMIM: 275350

KEGG: hsa:6948

STRING: 9606.ENSP00000215838

UniGene: Hs.417948

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