| Primary Identifier | MGI:2679260 | Organism | mouse, laboratory |
| Chromosome | 2 | NCBI Gene Number | 241324 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable aspartic-type endopeptidase inhibitor activity. Involved in several processes, including embryonic morphogenesis; maintenance of epithelial cell apical/basal polarity; and photoreceptor cell maintenance. Located in several cellular components, including apical plasma membrane; apicolateral plasma membrane; and cell junction. Part of subapical complex. Is active in apical part of cell. Is expressed in cerebellum ventricular layer; early conceptus; and embryo. Used to study retinitis pigmentosa. Human ortholog(s) of this gene implicated in focal segmental glomerulosclerosis 9 and ventriculomegaly - cystic kidney disease. Orthologous to human CRB2 (crumbs cell polarity complex component 2). PHENOTYPE: Homozygous inactivation of this gene causes severe gastrulation defects, impaired somitogenesis and organogenesis. and complete embryonic death by E12.5. Several organ primordia, including neuroepithelium, gut, and heart, fail to form properly. [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
