| Primary Identifier | MGI:2385110 | Organism | mouse, laboratory |
| Chromosome | 3 | NCBI Gene Number | 226548 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables endopeptidase activator activity and enzyme binding activity. Involved in positive regulation of endopeptidase activity. Acts upstream of or within Notch receptor processing and metanephros development. Predicted to be located in Golgi apparatus; cytoplasmic vesicle; and synaptic membrane. Predicted to be part of gamma-secretase complex. Predicted to be active in endoplasmic reticulum and presynaptic membrane. Is expressed in several structures, including brain; genitourinary system; gut; hemolymphoid system; and retina. Orthologous to human APH1A (aph-1 homolog A, gamma-secretase subunit). PHENOTYPE: Homozygous null embryos die by E11, are severely growth retarded by E9.5 and display defects in somite patterning, branchial arch and heart chamber development, vascular morphogenesis of the yolk sac and have distended pericardial sacs. [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
