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]
Full Name
Phosphoglycerate Dehydrogenase
Function
Catalyzes the reversible oxidation of 3-phospho-D-glycerate to 3-phosphonooxypyruvate, the first step of the phosphorylated L-serine biosynthesis pathway. Also catalyzes the reversible oxidation of 2-hydroxyglutarate to 2-oxoglutarate and the reversible oxidation of (S)-malate to oxaloacetate.
Biological Process
Brain developmentManual Assertion Based On ExperimentTAS:ProtInc
G1 to G0 transitionIEA:Ensembl
Gamma-aminobutyric acid metabolic processIEA:Ensembl
Glial cell developmentIEA:Ensembl
Glutamine metabolic processIEA:Ensembl
Glycine metabolic processIEA:Ensembl
L-serine biosynthetic processIEA:UniProtKB-KW
Neural tube developmentIEA:Ensembl
Neuron projection developmentIEA:Ensembl
Regulation of gene expressionIEA:Ensembl
Spinal cord developmentIEA:Ensembl
Taurine metabolic processIEA:Ensembl
Threonine metabolic processIEA:Ensembl
Cellular Location
cytosol
extracellular exosome
Involvement in disease
Phosphoglycerate dehydrogenase deficiency (PHGDHD):
An autosomal recessive inborn error of L-serine biosynthesis, clinically characterized by congenital microcephaly, psychomotor retardation, and seizures.
Neu-Laxova syndrome 1 (NLS1):
A lethal, autosomal recessive multiple malformation syndrome characterized by ichthyosis, marked intrauterine growth restriction, microcephaly, short neck, limb deformities, hypoplastic lungs, edema, and central nervous system anomalies including lissencephaly, cerebellar hypoplasia and/or abnormal/agenesis of the corpus callosum. Abnormal facial features include severe proptosis with ectropion, hypertelorism, micrognathia, flattened nose, and malformed ears.
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