Human Phosphoglycerate Dehydrogenase (PHGDH) ELISA Kit | PHGDH elisa kit
Human Phosphoglycerate Dehydrogenase (PHGDH) ELISA Kit
NCBI and Uniprot Product Information
NCBI Description
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]
Uniprot Description
PHGDH: Defects in PHGDH are the cause of phosphoglycerate dehydrogenase deficiency (PHGDH deficiency). It is characterized by congenital microcephaly, psychomotor retardation, and seizures. Belongs to the D-isomer specific 2-hydroxyacid dehydrogenase family.
Protein type: Oxidoreductase; Cell development/differentiation; Amino Acid Metabolism - glycine, serine and threonine; EC 1.1.1.95
Chromosomal Location of Human Ortholog: 1p12
Cellular Component: cytosol
Molecular Function: electron carrier activity; phosphoglycerate dehydrogenase activity; NAD binding
Biological Process: glial cell development; neural tube development; glycine metabolic process; gamma-aminobutyric acid metabolic process; glutamine metabolic process; L-serine biosynthetic process; regulation of gene expression; spinal cord development; amino acid biosynthetic process; brain development; taurine metabolic process; neurite development; threonine metabolic process
Disease: Phosphoglycerate Dehydrogenase Deficiency; Neu-laxova Syndrome 1
Research Articles on PHGDH
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Product Notes
The Human PHGDH phgdh (Catalog #AAA9301630) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA9301630 ELISA Kit recognizes Human PHGDH. It is sometimes possible for the material contained within the vial of "Phosphoglycerate Dehydrogenase (PHGDH), ELISA Kit" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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