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.
Phosphoglycerate dehydrogenase deficiency
PHGDHD
An autosomal recessive inborn error of L-serine biosynthesis, clinically characterized by congenital microcephaly, psychomotor retardation, and seizures.
None
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Amino-acid biosynthesis; L-serine biosynthesis; L-serine from 3-phospho-D-glycerate: step 1/3.
Belongs to the D-isomer specific 2-hydroxyacid dehydrogenase family.
PGDH3, PHGDH, D-3-phosphoglycerate dehydrogenase, 3-PGDH, 2-oxoglutarate reductase, Malate dehydrogenase
Proteins
Immunology & Infectious Disease
56651Da
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