Primary Identifier | MGI:1914103 | Organism | mouse, laboratory |
Chromosome | 7 | NCBI Gene Number | 66853 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables retinyl-palmitate esterase activity and triacylglycerol lipase activity. Involved in several processes, including acylglycerol metabolic process; negative regulation of sequestering of triglyceride; and positive regulation of triglyceride catabolic process. Acts upstream of or within lipid catabolic process and lipid droplet organization. Located in cytoplasm and lipid droplet. Is active in cytosol. Is expressed in brown fat and heart. Orthologous to human PNPLA2 (patatin like phospholipase domain containing 2). PHENOTYPE: Mice homozygous for this targeted mutation have defects in lipolysis and altered energy metabolism. Triglyceride accumulation in cardiac muscle leads to severe cardiac dysfunction and mortality. [provided by MGI curators] |