| Primary Identifier | MGI:98941 | Organism | mouse, laboratory |
| Chromosome | 6 | NCBI Gene Number | 22371 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable several functions, including identical protein binding activity; integrin binding activity; and protein-folding chaperone binding activity. Acts upstream of or within several processes, including activation of blood coagulation via clotting cascade; liver development; and platelet activation. Located in Weibel-Palade body; external side of plasma membrane; and extracellular space. Is expressed in several structures, including cardiovascular system; extraembryonic component; genitourinary system; immune system; and pancreas vasculature. Used to study von Willebrand's disease and von Willebrand's disease 2. Human ortholog(s) of this gene implicated in several diseases, including Behcet's disease; Bernard-Soulier syndrome; end stage renal disease; essential thrombocythemia; and von Willebrand's disease (multiple). Orthologous to human VWF (von Willebrand factor). PHENOTYPE: Homozygous null mutants exhibit hemostatic and thrombotic defects similar to human von Willebrand disease. Mutants have prolonged bleeding time, newborns occasionally show fatal intra-abdominal bleeding and some adults have detectable fecal occult blood. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
