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TCN2 encodes a member of the vitamin B12-binding protein family.
TCN2 polymorphism is associated with ulcerative colitis.
The association of the TCN2 polymorphism with peripheral neuropathy was independent of vitamin B-12 intake.
G/G homozygosity of C776G TC2 and the C/G genotype of the C776G TC2 genegene polymorphism increases the risk of oral cancer
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.
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).
There were no other associations between single -nucleotide polymorphisms and the efficacy of MTX (show MTX1 Antibodies) treatment. CONCLUSIONS: The MTHFR (show MTHFR Antibodies) 677CC and GGH (show GGH Antibodies) 401TT and CT genotypes were associated with a reduction in the number of MTX (show MTX1 Antibodies)-related adverse events.
Report TCN2 mutations causing transcobalamin deficiency in an Indian patient.
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 (show CD320 Antibodies)), were found to influence several clinical traits of cobalamin deficiency.
In Asian populations, the investigated polymorphisms mapping at TCN2 and CBS (show CBS Antibodies) genes did not provide any evidence of association with cleft lip/cleftpalate.
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 (show MTHFR Antibodies) 1298AA genotype
This gene encodes a member of the vitamin B12-binding protein family. This family of proteins, alternatively referred to as R binders, is expressed in various tissues and secretions. This plasma protein binds cobalamin and mediates the transport of cobalamin into cells. This protein and other mammalian cobalamin-binding proteins, such as transcobalamin I and gastric intrisic factor, may have evolved by duplication of a common ancestral gene. Alternative splicing results in multiple transcript variants.
, transcobalamin II; macrocytic anemia
, vitamin B12-binding protein 2