| Primary Identifier | MGI:1913802 | Organism | mouse, laboratory |
| Chromosome | 2 | NCBI Gene Number | 66552 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable aspartic endopeptidase activity, intramembrane cleaving and protein homodimerization activity. Involved in membrane protein proteolysis and regulation of immune response. Located in late endosome membrane and lysosomal membrane. Is expressed in genitourinary system; skeleton; and thymus primordium. Human ortholog(s) of this gene implicated in primary immunodeficiency disease. Orthologous to human SPPL2A (signal peptide peptidase like 2A). PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased immunoglobulin prior to and after immunization and decreased splenic B cells, myeloid dendritic cells, T2 B cells and follicular B cells. Mice homozygous for a hypomorphic allele exhibit similar albeit less severe phenotypes. [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
