Primary Identifier | MGI:1202296 | Organism | mouse, laboratory |
Chromosome | 9 | NCBI Gene Number | 20660 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables aspartic-type endopeptidase inhibitor activity. Involved in several processes, including establishment of protein localization; negative regulation of metabolic process; and regulation of signal transduction. Located in extracellular space; membrane; and nucleus. Is expressed in several structures, including genitourinary system; gut; hemolymphoid system; nervous system; and sensory organ. Human ortholog(s) of this gene implicated in Alzheimer's disease. Orthologous to human SORL1 (sortilin related receptor 1). PHENOTYPE: Homozygous mutation of this gene results in decreased femoral artery intimal thickness after cuff placement and abolished angiotensin II stimulated vascular smooth muscle migration and attachment. Two other alleles show an increase in beta-amyloid deposits or peptide in the brain. [provided by MGI curators] |