This gene encodes the enzyme which is involved in the early steps of L-serine synthesis in animal cells. L-serine is required for D-serine and other amino acid synthesis. The enzyme requires NAD/NADH as a cofactor and forms homotetramers for activity. Mutations in this gene have been found in a family with congenital microcephaly, psychomotor retardation and other symptoms. Multiple alternatively spliced transcript variants have been found, however the full-length nature of most are not known. [provided by RefSeq, Aug 2011]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| PHGDH-20-RE | 20 (40 μL) | 200 μL |  |
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| PHGDH-20-OR | 20 (40 μL) | 200 μL |  |
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| PHGDH-20-GO | 20 (40 μL) | 200 μL |  |
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| PHGDH-20-GR | 20 (40 μL) | 200 μL |  |
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| PHGDH-20-AQ | 20 (40 μL) | 200 μL |  |
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This gene encodes the enzyme which is involved in the early steps of L-serine synthesis in animal cells. L-serine is required for D-serine and other amino acid synthesis. The enzyme requires NAD/NADH as a cofactor and forms homotetramers for activity. Mutations in this gene have been found in a family with congenital microcephaly, psychomotor retardation and other symptoms. Multiple alternatively spliced transcript variants have been found, however the full-length nature of most are not known. [provided by RefSeq, Aug 2011]
Gene Symbol : PHGDH
Gene Name : Phosphoglycerate dehydrogenase
Chromosome : CHR 1: 119,711,736-119,744,225
Locus : 1p12
Alt. Genes : HIPK3
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