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Cross-platforn SNP explorer. By Peter D'Adamo, ND
is a snp on gene
SHMT1 (serine hydroxymethyltransferase 1 (soluble))
(transliterated to +)
Minor Allele Frequency
- (negative/reverse strand)
Helps to shift the emphasis of the methylation cycle toward the building blocks needed for new DNA synthesis and away from the processing of homocysteine to methionine.
The SHMT1 gene provides instructions for making a form of the serine hydroxymethyltransferase protein, an enzyme that contains pyridoxal phosphate, a form of vitamin B6. The enzyme helps to convert the amino acid serine and a form of folic acid (tetrahydrofolate) to the amino acid glycine and another form of folic acid (5,10-methylene tetrahydrofolate). The results of this reaction provides the ingredients for making the amino acid methionine and some of the components for making DNA. Variation in C1420T (rs1979277) of the SHMT1 gene can affect the risk of mothers having a Down syndrome baby, with the G allele being protective against Down syndrome. SHMT1 is important in the development of cancer resulting from damage to the repair mechanisms of DNA because it is responsible for a change in the balance of the DNA components uracil and thymidine during replication of DNA.