| Primary Identifier | MGI:97004 | Organism | mouse, laboratory |
| Chromosome | 3 | NCBI Gene Number | 17380 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables metallocarboxypeptidase activity. Involved in several processes, including amyloid-beta clearance; angiotensin maturation; and positive regulation of long-term synaptic potentiation. Acts upstream of or within amyloid-beta metabolic process. Located in several cellular components, including dendrite; neuron projection terminus; and synaptic vesicle. Is active in extracellular region. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; liver and biliary system; and mammary gland. Used to study Alzheimer's disease. Human ortholog(s) of this gene implicated in Alzheimer's disease; Charcot-Marie-Tooth disease axonal type 2T; cerebellar ataxia type 43; cerebral amyloid angiopathy; and membranous glomerulonephritis. Orthologous to human MME (membrane metalloendopeptidase). PHENOTYPE: Mice homozygous for a knock-out allele exhibit enhanced allergic contact dermatitis responses, diffuse hepatic necrosis after LPS shock or treatment with a combination of TNF and interleukin-1 beta, and increased brain and plasma amyloid beta peptide levels. [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
