Primary Identifier | MGI:87876 | Organism | mouse, laboratory |
Chromosome | 5 | NCBI Gene Number | 11423 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables acetylcholinesterase activity; identical protein binding activity; and laminin binding activity. Involved in positive regulation of cold-induced thermogenesis. Acts upstream of or within several processes, including acetylcholine catabolic process; acetylcholine receptor signaling pathway; and regulation of receptor recycling. Located in several cellular components, including basement membrane; cell surface; and neuromuscular junction. Is expressed in several structures, including alimentary system; genitourinary system; musculature; nervous system; and sensory organ. Human ortholog(s) of this gene implicated in Alzheimer's disease; drug dependence (multiple); epilepsy; myasthenia gravis; and subacute delirium. Orthologous to human ACHE (acetylcholinesterase (Yt blood group)). PHENOTYPE: Homozygous mutants show retarded postnatal development, tremors, impaired righting response, delayed maturation of external ear, failure of eyelids to open, and die by 3-wk. of age. Mutants are highly sensitive to butyrylcholinesterase inhibitor toxicity. [provided by MGI curators] |