PHGDH
GeneName
PHGDH
Summary
PHGDH, also known as malate dehydrogenase or A10, is a 57 kDa enzyme primarily located in the cytosol and extracellular exosomes. It plays a vital role in the L-serine biosynthetic pathway, facilitating the conversion of 3-phosphoglycerate to L-serine. PHGDH is involved in various biological processes, including brain development, glial cell development, and the regulation of gene expression. Additionally, it participates in the metabolism of neurotransmitters such as gamma-aminobutyric acid and contributes to the metabolic pathways of glutamine, glycine, taurine, and threonine.
Importance
PHGDH is relevant to: - Neurodevelopmental disorders due to its role in brain and spinal cord development - Metabolic diseases linked to L-serine deficiency, which can impact neural function - Cancer metabolism, as elevated PHGDH expression has been associated with increased serine production in various tumours - Potential therapeutic targets for modulating neurotransmitter levels and addressing neurological conditions
Top Products
For researchers investigating PHGDH, we recommend two primary antibodies that stand out for their performance and reliability. The first is the well-cited monoclonal antibody, Anti-PHGDH/Malate dehydrogenase antibody [4A3-1D6] (ab57030), which has garnered 16 citations, reflecting its trustworthiness in the field. This antibody is versatile, suitable for a range of applications including Western blotting (WB), immunohistochemistry (IHC), immunocytochemistry (ICC), immunoprecipitation (IP), and flow cytometry (FC).Additionally, we offer the recombinant antibody, Anti-PHGDH/Malate dehydrogenase antibody [EPR28634-1] (ab324530). This product is particularly advantageous for those seeking the consistency that recombinant antibodies provide. It has been validated for use in WB, IHC, and ICC, making it a solid choice for various experimental needs. Together, these antibodies provide robust options for studying PHGDH effectively.
Abcam Product Citation Summary
The data indicates that PHGDH is being investigated in the context of metabolic switching, particularly in human HCT116 SDHB knockout cells. This suggests a focus on the role of PHGDH in metabolic pathways and its potential implications in cellular metabolism.
Abcam Product Citation Table
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.
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.
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.
Pathway
Amino-acid biosynthesis; L-serine biosynthesis; L-serine from 3-phospho-D-glycerate: step 1/3.
Sequence Similarities
Belongs to the D-isomer specific 2-hydroxyacid dehydrogenase family.
Alternative names
PGDH3, PHGDH, D-3-phosphoglycerate dehydrogenase, 3-PGDH, 2-oxoglutarate reductase, Malate dehydrogenase