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Evidence exists linking elevated homocysteine levels with vascular dementia [10] and Alzheimer's disease. [11] [12] [13] There is also evidence that elevated homocysteine levels and low levels of vitamin B6 and B12 are risk factors for mild cognitive impairment and dementia. [14]
"B12" and "Cbl" redirect here. For other uses of B12, see B12 (disambiguation). For the musical group, see Carbon Based Lifeforms. Pharmaceutical compound Vitamin B12 General skeletal formula of cobalamins Stick model of cyanocobalamin (R = CN) based on the crystal structure Clinical data Other names Vitamin B12, vitamin B-12, cobalamin AHFS / Drugs.com Monograph MedlinePlus a605007 License ...
Vitamin B 12 levels can be falsely high or low and data for sensitivity and specificity vary widely. There is no gold standard human assay to confirm a vitamin B 12 deficiency. [4] Healthcare providers use this test when a vitamin B 12 deficiency is suspected, which can cause anemia and irreversible nerve damage. [3]
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Methylenetetrahydrofolate reductase deficiency is the most common genetic cause of elevated serum levels of homocysteine (hyperhomocysteinemia). It is caused by genetic defects in MTHFR, which is an important enzyme in the methyl cycle. [1] Common variants of MTHFR deficiency are asymptomatic and have only minor effects on disease risk. [2]
Homocysteine levels typically are higher in men than women, and increase with age. [15] [16] Common levels in Western populations are 10 to 12 μmol/L, and levels of 20 μmol/L are found in populations with low B-vitamin intakes or in the elderly (e.g., Rotterdam, Framingham). [17] [18]
Several serious, even life-threatening diseases cause elevated serum HC, measured as abnormally high serum vitamin B 12. [ 2 ] Transcobalamin II (TC-2) , a nonglycoprotein secretory protein of molecular mass 43 kDa, is encoded in the human by the TCN2 gene.
6947 n/a Ensembl ENSG00000134827 n/a UniProt P20061 n/a RefSeq (mRNA) NM_001062 n/a RefSeq (protein) NP_001053 n/a Location (UCSC) Chr 11: 59.85 – 59.87 Mb n/a PubMed search n/a Wikidata View/Edit Human Haptocorrin (HC) also known as transcobalamin-1 (TC-1) or cobalophilin is a transcobalamin protein that in humans is encoded by the TCN1 gene. One essential function of haptocorrin is ...