| Primary Identifier | MGI:106250 | Organism | mouse, laboratory |
| Chromosome | 19 | NCBI Gene Number | 226090 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 9.1.0) Predicted to enable metalloexopeptidase activity. Predicted to be involved in cellular response to oxidative stress; ovarian follicle development; and proteolysis. Predicted to act upstream of or within endoplasmic reticulum unfolded protein response. Predicted to be located in endoplasmic reticulum membrane. Is expressed in several structures, including alimentary system; brain; connective tissue; genitourinary system; and sensory organ. Used to study chronic kidney disease. Orthologous to human ERMP1 (endoplasmic reticulum metallopeptidase 1). PHENOTYPE: Homozygous null mice exhibit early embryonic lethality. Heterozygotes exhibit loss of renal function over time, glomerular hyperfiltration, proteinuria, increased renal inflammation and fibrosis with age. Mice homozygous for an ENU-induced mutation exhibit cardiovascular defects, anopthalmia, renal dysplasia, and craniofacial anomalies. [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
