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 7.1.0) 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 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] |