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: Cell development/differentiation; Amino Acid Metabolism - glycine, serine and threonine; EC 1.1.1.95; Oxidoreductase
Chromosomal Location of Human Ortholog: 1p12
Cellular Component: cytosol; myelin sheath
Molecular Function: electron carrier activity; NAD binding; phosphoglycerate dehydrogenase activity
Biological Process: amino acid biosynthetic process; brain development; gamma-aminobutyric acid metabolic process; glial cell development; glutamine metabolic process; glycine metabolic process; L-serine biosynthetic process; neural tube development; neurite development; regulation of gene expression; serine family amino acid biosynthetic process; spinal cord development; taurine metabolic process; threonine metabolic process
Disease: Neu-laxova Syndrome 1; Phosphoglycerate Dehydrogenase Deficiency
Product Notes
The PHGDH phgdh (Catalog #
AAA719516) is an Antibody produced from Rabbit and is intended for research purposes only. The product is available for immediate purchase. The Rabbit anti-human D-3-phosphoglycerate dehydrogenase polyclonal Antibody, FITC reacts with Human and may cross-react with other species as described in the data sheet. AAA Biotech's D-3-phosphoglycerate dehydrogenase can be used in a range of immunoassay formats including, but not limited to, ELISA (EIA). Researchers should empirically determine the suitability of the PHGDH phgdh for an application not listed in the data sheet. Researchers commonly develop new applications and it is an integral, important part of the investigative research process.
It is sometimes possible for the material contained within the vial of
"D-3-phosphoglycerate dehydrogenase, Polyclonal Antibody" 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
All products in the AAA Biotech catalog are strictly for research-use only, and are
absolutely not suitable for use in any
sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a
product from AAA Biotech, you
are explicitly certifying that said products will be properly tested and used in line with
industry standard. AAA Biotech
and its authorized distribution partners reserve the right to refuse to fulfill any order if
we have any indication that a
purchaser may be intending to use a product outside of our accepted criteria.
Disclaimer
Though we do strive to guarantee the information represented in this datasheet, AAA Biotech
cannot be held
responsible for any oversights or imprecisions. AAA Biotech reserves the right to adjust any
aspect of this datasheet at
any time and without notice. It is the responsibility of the customer to inform AAA Biotech
of any product performance
issues observed or experienced within 30 days of receipt of said product. To see additional
details on this or any of our
other policies, please see our
Terms & Conditions page.