Cloned (Comment) | Organism |
---|---|
gene PHGDH, quantitative expression analysis in wild-type and mutant mice, genotyping, overview | Mus musculus |
Protein Variants | Comment | Organism |
---|---|---|
additional information | generation of Phgdh heterozygous mice, Phgdh+/-, using E14 embryonic stem cells 129P2/OlaHsd background | Mus musculus |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
gene PHGDH | - |
Mus musculus | - |
C57BL/6J mice, gene PHGDH | - |
Synonyms | Comment | Organism |
---|---|---|
D-3-phosphoglycerate dehydrogenase | - |
Mus musculus |
D-3-phosphoglycerate dehydrogenase | - |
Homo sapiens |
Phgdh | - |
Mus musculus |
Phgdh | - |
Homo sapiens |
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 | 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 |