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Literature summary for 1.1.1.95 extracted from

  • Furuya, S.; Yoshida, K.; Kawakami, Y.; Yang, J.H.; Sayano, T.; Azuma, N.; Tanaka, H.; Kuhara, S.; Hirabayashi, Y.
    Inactivation of the 3-phosphoglycerate dehydrogenase gene in mice: changes in gene expression and associated regulatory networks resulting from serine deficiency (2008), Funct. Integr. Genomics, 8, 235-249.
    View publication on PubMed
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Cloned(Commentary)

Cloned (Comment) Organism
gene PHGDH, quantitative expression analysis in wild-type and mutant mice, genotyping, overview Mus musculus

Protein Variants

Protein Variants Comment Organism
additional information generation of Phgdh heterozygous mice, Phgdh+/-, using E14 embryonic stem cells 129P2/OlaHsd background Mus musculus

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
 gene PHGDH
-
Mus musculus
-
 C57BL/6J mice, gene PHGDH
-

Synonyms

Synonyms Comment Organism
D-3-phosphoglycerate dehydrogenase
-
 Mus musculus
D-3-phosphoglycerate dehydrogenase
-
 Homo sapiens
Phgdh
-
 Mus musculus
Phgdh
-
 Homo sapiens

Expression

Organism Comment Expression
Mus musculus Phgdh knockout mouse embryos demonstrate that free serine and glycine concentrations are decreased markedly in head samples down

General Information

General Information Comment Organism
malfunction mutations in the human PHGDH cause serine deficiency disorders characterized by severe neurological symptoms including congenital microcephaly and psychomotor retardation, growth retardation phenotypes seen in human patients suffering from SDD caused by PHGDH mutations, overview Homo sapiens
malfunction targeted disruption of Phgdh in mice causes overall growth retardation with severe brain microcephaly and leads to embryonic lethality Mus musculus
physiological function mutations in the human PHGDH cause serine deficiency disorders characterized by severe neurological symptoms including congenital microcephaly and psychomotor retardation Homo sapiens
physiological function Phgdh knockout mouse embryos demonstrate that free serine and glycine concentrations are decreased markedly in head samples Mus musculus