| Primary Identifier | MGI:1340046 | Organism | mouse, laboratory |
| Chromosome | 5 | NCBI Gene Number | 11496 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Predicted to enable metalloendopeptidase activity. Involved in neurotransmitter receptor localization to postsynaptic specialization membrane. Acts upstream of or within adult locomotory behavior and myelination in peripheral nervous system. Located in axon and membrane. Is active in glutamatergic synapse and postsynaptic density membrane. Is expressed in cerebellum; metanephros; and peripheral nervous system. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 61. Orthologous to human ADAM22 (ADAM metallopeptidase domain 22). PHENOTYPE: Homozygous mutant mice exhibit severe ataxia, die before weaning and have marked hypomyelination of the peripheral nerves. [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
