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 Context
Disease Association: Phosphoglycerate dehydrogenase deficiency (PHGDHD) : An autosomal recessive inborn error of L-serine biosynthesis, clinically characterized by congenital microcephaly, psychomotor retardation, and seizures. [The disease is caused by variants affecting the gene represented in this entry] | 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. [The disease is caused by variants affecting the gene represented in this entry]
Pathway: Amino-acid biosynthesis; L-serine biosynthesis; L-serine from 3-phospho-D-glycerate: step 1/3
Product Specifications
Mouse anti-Human/Mouse/Rat sapiens (Human) PHGDH Monoclonal Antibody is a recombinant protein. Suitable for ELISA and Western Blot applications. Explore more Antibody products →
