This gene encodes the cellular form of serine hydroxymethyltransferase, a pyridoxal phosphate-containing enzyme that catalyzes the reversible conversion of serine and tetrahydrofolate to glycine and 5,10-methylene tetrahydrofolate. This reaction provides one carbon units for synthesis of methionine, thymidylate, and purines in the cytoplasm. This gene is located within the Smith-Magenis syndrome region on chromosome 17. Alternative splicing of this gene results in 2 transcript variants encoding 2 different isoforms. Additional transcript variants have been described, but their biological validity has not been determined.
SHMT1; serine hydroxymethyltransferase 1 (soluble); serine hydroxymethyltransferase, cytosolic; 14 kDa protein; CSHMT; cytoplasmic serine hydroxymethyltransferase; MGC15229; MGC24556; SHMT; serine methylase; glycine hydroxymethyltransferase; zgc:66171; zgc:77524; zSHMT-1; MEL-32