Primary Identifier | MGI:97788 | Organism | mouse, laboratory |
Chromosome | 5 | NCBI Gene Number | 100678 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable L-phosphoserine phosphatase activity; magnesium ion binding activity; and protein homodimerization activity. Acts upstream of or within in utero embryonic development. Predicted to be located in cytosol. Predicted to be active in cytoplasm. Is expressed in several structures, including alimentary system; brain; integumental system; liver; and urinary system. Human ortholog(s) of this gene implicated in PSPH deficiency. Orthologous to human PSPH (phosphoserine phosphatase). PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic growth retardation, subcutaneous edema, placentation defects associated with placental hemorrhage and necrosis, abnormal placental labyrinth vasculature morphology and trophoblast layer formation, and complete preweaning lethality. [provided by MGI curators] |