| Primary Identifier | MGI:1096335 | Organism | mouse, laboratory |
| Chromosome | 12 | NCBI Gene Number | 11491 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 9.1.0) Enables metallodipeptidase activity and metalloendopeptidase activity. Involved in several processes, including germinal center formation; lymphocyte differentiation; and negative regulation of cold-induced thermogenesis. Acts upstream of or within membrane protein ectodomain proteolysis; regulation of neuron migration; and regulation of neuron projection development. Located in cytoplasm and membrane. Is active in plasma membrane. Is expressed in several structures, including brain; foregut-midgut junction; heart; lung; and retina. Used to study atopic dermatitis. Human ortholog(s) of this gene implicated in Alzheimer's disease; neonatal inflammatory skin and bowel disease 1; and type 2 diabetes mellitus. Orthologous to human ADAM17 (ADAM metallopeptidase domain 17). PHENOTYPE: Most mice homozygous for targeted mutations that inactivate the gene die perinatally with stunted vibrissae and open eyelids. Survivors display various degrees of eye degeneration, perturbed hair coats, curly vibrissae, and irregular pigmentation patterns. Histological analysis of fetuses reveal defects in epithelial cell maturation and organization in multiple organs. [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
