Primary Identifier | MGI:1346542 | Organism | mouse, laboratory |
Chromosome | 9 | NCBI Gene Number | 23821 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables aspartic-type endopeptidase activity. Involved in amyloid precursor protein catabolic process; presynaptic modulation of chemical synaptic transmission; and proteolysis. Acts upstream of or within amyloid-beta metabolic process and proteolysis. Located in several cellular components, including cell surface; endosome; and trans-Golgi network. Is active in hippocampal mossy fiber to CA3 synapse and presynapse. Is expressed in several structures, including immune system; liver; nervous system; retina; and submandibular gland. Used to study schizophrenia. Human ortholog(s) of this gene implicated in Alzheimer's disease. Orthologous to human BACE1 (beta-secretase 1). PHENOTYPE: Some alleles with a targeted mutation exhibit small body size, postnatal lethality, hyperactivity, decreased anxiety, and abnormal APP processing by neurons, while others appear normal. [provided by MGI curators] |