Entrez gene ID | | 6470 |
Official gene symbol | | SHMT1 |
Full name | | serine hydroxymethyltransferase 1 (soluble) |
Aliases | | ,CSHMT,MGC15229,MGC24556,SHMT, |
Gene summary | | 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. [provided by RefSeq] |
Location | | Chromosome: 17 Locus: 17p11.2 |
Gene position | | 18266856 - 18231187 Map Viewer |
Gene orientation | | minus |
Gene size | | 35670 bp |
Gene sequence |
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OMIM ID | | 182144 |
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