Primary Identifier | MGI:1891700 | Organism | mouse, laboratory |
Chromosome | 1 | NCBI Gene Number | 59287 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Contributes to aspartic endopeptidase activity, intramembrane cleaving. Acts upstream of or within several processes, including amyloid precursor protein metabolic process; positive regulation of amyloid precursor protein biosynthetic process; and regulation of synaptic plasticity. Located in several cellular components, including Golgi apparatus; lysosome; and synaptic vesicle. Part of gamma-secretase complex. Is expressed in several structures, including brain and genitourinary system. Used to study chronic myeloid leukemia; schizophrenia; and urinary bladder cancer. Human ortholog(s) of this gene implicated in Alzheimer's disease; hidradenitis suppurativa; and schizophrenia. Orthologous to human NCSTN (nicastrin). PHENOTYPE: Homozygous mutant embryos die exhibiting morphological defects of the somites, yolk sac vasculature, neural tube, and pericardial sacs. [provided by MGI curators] |