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 8.0.0) Predicted to enable metalloendopeptidase activity; protein homodimerization activity; and zinc ion binding activity. Involved in axonogenesis; embryonic heart tube development; and gene expression. 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; central nervous system; genitourinary system; heart; and retina. Used to study double outlet right ventricle. Human ortholog(s) of this gene implicated in Alzheimer's disease; congestive heart failure; 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] |