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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.
AI324848; AI385541; C81125; CSHMT; cytoplasmic serine hydroxymethyltransferase; cytosolic form; cytosolic serine hydroxymethyltransferase; glycine hydroxymethyltransferase; LRRGT00032; MEL-32; MGC15229; MGC24556; mshmt; mshmt1; mshmt2; serine hydroxymethyl transferase; serine hydroxymethyltransferase; serine hydroxymethyltransferase 1; serine hydroxymethyltransferase 1 (soluble); serine hydroxymethyltransferase 1 (soluble) isoform 1; serine hydroxymethyltransferase 2 (mitochondrial); serine hydroxymethyltransferase, cytosolic; Serine methylase; SHMT; Shmt1; shmt1 protein; SHMT2; zgc:66171; zgc:77524; zSHMT-1
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