| Primary Identifier | MGI:109548 | Organism | mouse, laboratory |
| Chromosome | 9 | NCBI Gene Number | 11487 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables peptidase activity; protein homodimerization activity; and protein kinase binding activity. Involved in several processes, including protein catabolic process at postsynapse; proteolysis; and regulation of neurotransmitter receptor localization to postsynaptic specialization membrane. Acts upstream of or within protein processing. Located in several cellular components, including cell surface; postsynaptic density; and synaptic membrane. Part of pore complex. Is active in glutamatergic synapse. Is expressed in several structures, including central nervous system; foregut-midgut junction; genitourinary system; immune system; and sensory organ. Human ortholog(s) of this gene implicated in Alzheimer's disease 18 and reticulate acropigmentation of Kitamura. Orthologous to human ADAM10 (ADAM metallopeptidase domain 10). PHENOTYPE: Targeted inactivation of this gene leads to embryonic lethality at E9.5. Embryos homozygous for a knock-out allele display decreased size and multiple abnormalities related to Notch signaling, including defects of the developing central nervous system, somites, and cardiovascular system. [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
