| Primary Identifier | MGI:2679229 | Organism | mouse, laboratory |
| Chromosome | 10 | NCBI Gene Number | 50701 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables serine-type endopeptidase activity. Acts upstream of or within several processes, including acute inflammatory response to antigenic stimulus; response to fungus; and response to lipopolysaccharide. Located in cytoplasm. Human ortholog(s) of this gene implicated in cyclic hematopoiesis; periodontitis; polycythemia vera; severe congenital neutropenia; and severe congenital neutropenia 1. Orthologous to human ELANE (elastase, neutrophil expressed). PHENOTYPE: Homozygotes for a null allele show impaired neutrophil physiology, susceptibility to Gram (-) bacterial infection, reduced sensitivity to xenobiotics, and abnormal local Shwartzman responses. Homozygotes for a knock-in allele show susceptibility to fungal infection and resistance to endotoxic shock. [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
