Primary Identifier | MGI:96820 | Organism | mouse, laboratory |
Chromosome | 8 | NCBI Gene Number | 16956 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables lipoprotein lipase activity. Involved in several processes, including positive regulation of cytokine production; positive regulation of macrophage derived foam cell differentiation; and triglyceride catabolic process. Acts upstream of or within response to bacterium. Located in cell surface and extracellular space. Is expressed in several structures, including brain; cardiovascular system; limb; lung; and sensory organ. Used to study familial lipoprotein lipase deficiency. Human ortholog(s) of this gene implicated in Alzheimer's disease; artery disease (multiple); familial hyperlipidemia (multiple); muscular disease; and type 2 diabetes mellitus. Orthologous to human LPL (lipoprotein lipase). PHENOTYPE: Homozygotes for targeted null mutations become cyanotic and die within 2 days of birth due to chylomicron engorgement of capillaries. Mutants show hypertriglyceridemia and reduced fat stores. Heterozygotes show 1.5-2-fold elevated triglyceride levels. [provided by MGI curators] |