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 8.0.0) 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 active in extracellular region. 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] |