| Primary Identifier | MGI:2448554 | Organism | mouse, laboratory |
| Chromosome | 9 | NCBI Gene Number | 235627 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable protein kinase binding activity. Acts upstream of or within blood coagulation; megakaryocyte development; and platelet alpha granule organization. Predicted to be located in endoplasmic reticulum. Predicted to be active in cytosol and membrane. Used to study gray platelet syndrome. Human ortholog(s) of this gene implicated in gray platelet syndrome. Orthologous to human NBEAL2 (neurobeachin like 2). PHENOTYPE: Homozygous null mice exhibit megakaryocyte and platelet abnormalities resulting in impaired arterial thrombus formation and protection from infarction following cerebral ischemia. Wound repair is impaired. These abnormalities result in a bleeding disorder similiar to Gray Platelet Syndrome. [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
