Primary Identifier | MGI:1095733 | Organism | mouse, laboratory |
Chromosome | 16 | NCBI Gene Number | 19128 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable calcium ion binding activity. Involved in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction. Located in extracellular space. Is expressed in several structures, including brain; frenulum; liver; and tooth. Human ortholog(s) of this gene implicated in autosomal dominant thrombophilia due to protein S deficiency; autosomal recessive thrombophilia due to protein S deficiency; cerebral infarction; and protein S deficiency. Orthologous to human PROS1 (protein S). PHENOTYPE: Mice homozygous for a knock-out allele exhibit neonatal lethality associated with thrombosis, hemorrhage, and thrombocytopenia. [provided by MGI curators] |