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.
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Protein Aliases: cytoplasmic serine hydroxymethyltransferase; Glycine hydroxymethyltransferase; serine hydroxymethyltransferase 1 (soluble); Serine hydroxymethyltransferase, cytosolic; Serine methylase; SHMT
Gene Aliases: CSHMT; SHMT; SHMT1
UniProt ID: (Human) P34896
Entrez Gene ID: (Human) 6470