| Primary Identifier | MGI:1101357 | Organism | mouse, laboratory |
| Chromosome | 4 | NCBI Gene Number | 230857 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 9.1.0) Predicted to enable metalloendopeptidase activity; protein homodimerization activity; and zinc ion binding activity. Involved in several processes, including axonogenesis; embryonic heart tube development; and semaphorin-plexin signaling pathway. Acts upstream of or within pharyngeal system development. Predicted to be located in several cellular components, including cytoplasmic vesicle; external side of plasma membrane; and perinuclear region of cytoplasm. Predicted to be active in plasma membrane. Is expressed in several structures, including alimentary system; branchial arch mesenchyme; cardiovascular system; genitourinary system; and retina. Used to study double outlet right ventricle. Human ortholog(s) of this gene implicated in Alzheimer's disease; coronary artery disease; essential hypertension; and hypertension. Orthologous to human ECE1 (endothelin converting enzyme 1). PHENOTYPE: Homozygotes for targeted null mutations show cardiac and craniofacial abnormalities and embryonic mortality. [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
