Gene Symbol | PNPLA2 |
Entrez Gene ID | 57104 |
Full Name | patatin like phospholipase domain containing 2 |
Synonyms | 1110001C14Rik,ATGL,FP17548,PEDF-R,TTS-2.2,TTS2,iPLA2zeta |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes an enzyme which catalyzes the first step in the hydrolysis of triglycerides in adipose tissue. Mutations in this gene are associated with neutral lipid storage disease with myopathy. [provided by RefSeq, Jul 2010]. |
Disorder MIM: | |
Disorder Html: | Neutral lipid storage disease with myopathy, 610717 (3) |