Primary Identifier | MGI:96828 | Organism | mouse, laboratory |
Chromosome | 10 | NCBI Gene Number | 16971 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.3.0) Enables calcium ion binding activity; cargo receptor activity; and signaling receptor binding activity. Involved in several processes, including amyloid-beta clearance by cellular catabolic process; negative regulation of signal transduction; and regulation of vesicle-mediated transport. Acts upstream of or within several processes, including cholesterol metabolic process; endocytosis; and heart development. Located in external side of plasma membrane. Is active in glutamatergic synapse and postsynaptic density membrane. Is expressed in several structures, including alimentary system; brain; extraembryonic component; genitourinary system; and respiratory system. Used to study Alzheimer's disease; cardiomyopathy; congenital diaphragmatic hernia; gastroschisis; and omphalocele. Human ortholog(s) of this gene implicated in Alzheimer's disease; keratosis pilaris atrophicans; myocardial infarction; and sciatic neuropathy. Orthologous to human LRP1 (LDL receptor related protein 1). PHENOTYPE: Mice homozygous for a null allele exhibit lethality during late organogenesis. [provided by MGI curators] |