Gene SHMT1
Back to Curriculum
Also known as
Serine Hydroxymethyltransferase 1, SHMT, CSHMTOverview
SHMT1 (Serine Hydroxymethyltransferase 1) encodes the cytoplasmic form of serine hydroxymethyltransferase, a pyridoxal phosphate (vitamin B6)-dependent enzyme that plays a central role in one-carbon metabolism and folate metabolism. This enzyme catalyzes the reversible conversion of serine and tetrahydrofolate to glycine and 5,10-methylenetetrahydrofolate, providing one-carbon units essential for nucleotide biosynthesis, amino acid metabolism, and methylation reactions. SHMT1 is crucial for maintaining the balance of one-carbon donors in the cytoplasm, which are necessary for DNA synthesis, DNA repair, and epigenetic regulation through DNA methylation.Genetic variants in SHMT1 have been associated with altered folate metabolism and may influence individual requirements for folate and vitamin B6. Some polymorphisms in SHMT1 have been linked to plasma homocysteine levels, neural tube defect risk, and potentially cancer susceptibility, though the relationships are complex and context-dependent. Because SHMT1 works closely with other folate-metabolizing enzymes including MTHFR, MTR, and MTRR, the overall impact of SHMT1 variants may depend on genetic variations in these related pathways. Understanding SHMT1 genetic variation can provide insights into personalized nutrition recommendations for folate and B vitamin supplementation, particularly for women of childbearing age and individuals with elevated homocysteine levels.