Lurp

Cross-platforn SNP explorer. By Peter D'Adamo, ND


rs6495446

Hard Link
rs6495446 is a snp on gene MTHFS (5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase))

GeneMTHFS Chromosome number Chromosome position
Alleles (transliterated to +) Minor Allele Minor Allele Frequency
Notation Thr202Ala, ST20, G39646A Clinical significance Orientation (dbSNP) - (negative/reverse strand)
SNP Function
[PMID: 9030524] MTHFRS is the only enzyme known to metabolize 5-formyltetrahydrofolate and catalyzes its conversion to 5,10-methenyltetrahydrofolate. [PMID: 9030524] The low levels of 5-CHO-H4PteGlu [5-formyltetrahydrofolate] in the cell do play a role in folic acid-dependent one-carbon metabolism. 5-CHO-H4PteGlu is required to keep cytoplasmic folate metabolism in homeostasis by mediating the flow of one-carbon units in the cytoplasm through either the homocysteine remethylation or serine synthesis pathways [SHMT1, 2]. The need for folate-dependent serine synthesis in the cytoplasm is not clearly understood because serine synthesis from glycolytic intermediates also occurs in the cytoplasm. However, these studies suggest that the slow tight binding inhibitor 5-CHO-H4PteGlu regulates cSHMT activity and folate-dependent serine synthesis. This may be a mechanism used by cells to prevent accumulation of intracellular folate as 5-CH3-H4PteGlu and thereby regenerate H4PteGlu for purine biosynthesis. Our results suggest that 5-formyltetrahydrofolate inhibits serine hydroxymethyltransferase activity in vivo and that serine synthesis and homocysteine remethylation compete for one-carbon units in the cytoplasm.
Gene Function
The MTHFS gene provides instructions for making the 5,10-methenyltetrahydrofolate synthetase enzyme. This protein enables the conversion of 5-formyltetrahydrofolate to 5,10-methenyltetrahydrofolate, a precursor of reduced folates involved in the 1-carbon metabolism pathway. This metabolic pathway is a series of steps which enable a molecule of carbon from serine or glycine to be transferred to tetrahydrofolate (THF) to form methylene-THF. An increased activity of the MTHFS protein can result in an increased rate of folate use and folate depletion (monitor MCV, RDW and the need for folic acid after response to other methionine and folate cycle cofactor supplementation). Magnesium, the cofactor of MTHFS may be depleted. Test thyroid function (comprehensive thyroid panel) and liver conversion (rT3).  Temporary magnesium supplementation should be replaced when thyroid hormone activity is restored. Supplementing the SHMT carbon-donor with its cofactor, B6 and regulating cellular Magnesium with exogenous thyroid may be indicated. 
This SNP is reported by one or more services.


23andme V3

REPORTED




23andme V4

REPORTED




23andme V5

REPORTED




Ancestry DNA

REPORTED




Genos Export for Promethease

NOT REPORTED




DSL/ Opus Chip

REPORTED




Opus 23 Curated

CURATED




CLINVAR Curated

NOT CURATED




GWAS Curated

NOT CURATED





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