NP_006614.2
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
D-3-phosphoglycerate dehydrogenase
NCBI Official Synonym Full Names
phosphoglycerate dehydrogenase
NCBI Official Synonym Symbols
NLS; PDG; PGD; NLS1; PGAD; PGDH; SERA; 3PGDH; 3-PGDH; PHGDHD; HEL-S-113 [Similar Products]
NCBI Protein Information
D-3-phosphoglycerate dehydrogenase
UniProt Protein Name
D-3-phosphoglycerate dehydrogenase
UniProt Synonym Gene Names
UniProt Entry Name
SERA_HUMAN
NCBI Summary for PHGDH
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 Comments for PHGDH
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
Research Articles on PHGDH
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Products associated with anti-PHGDH antibody
Pathways associated with anti-PHGDH antibody
Diseases associated with anti-PHGDH antibody
Organs/Tissues associated with anti-PHGDH antibody
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