Primary Identifier | MGI:1355330 | Organism | mouse, laboratory |
Chromosome | 3 | NCBI Gene Number | 236539 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable phosphoglycerate dehydrogenase activity. Acts upstream of or within several processes, including gamma-aminobutyric acid metabolic process; nervous system development; and proteinogenic amino acid metabolic process. Located in myelin sheath. Is expressed in several structures, including alimentary system; brain; genitourinary system; integumental system; and sensory organ. Human ortholog(s) of this gene implicated in Neu-Laxova syndrome 1; PHGDH deficiency; and amino acid metabolic disorder. Orthologous to human PHGDH (phosphoglycerate dehydrogenase). PHENOTYPE: Mice homozygous for a null allele die by E13.5 and exhibit abnormal neural development. [provided by MGI curators] |