| PNPLA3 |
| LOCUS ID | 80339 | |||||||||||||
| GENE_SYMBOL | PNPLA3 | |||||||||||||
| GENE NAME | patatin like phospho | |||||||||||||
| SYNONYMNS | ADPN,C22orf20,iPLA(2)epsilon | |||||||||||||
| CHROMOSOME | 22 | |||||||||||||
| HOMOLOGENE ID | 11883 |
| microRNAs | NA | NA |
| GENE SUMMARY |
|---|
| The protein encoded by this gene is a triacylglycerol lipase that mediates triacylglycerol hydrolysis in adipocytes. The encoded protein, which appears to be membrane bound, may be involved in the balance of energy usage/storage in adipocytes. [provided by RefSeq, Jul 2008] |
| OBSERVATIONS |
|---|
| Complication | Evidence | PMID |
| Cardiovascular | 1. Obese/Metabolic NAFLD due to the PNPLA3 or TM6SF2 genetic variants predisposes to type 2 diabetes and cardiovascular disease. | 27128911 |
| Insulin resistance and inflammation | 1. Increased liver fat may be caused by insulin resistance and adipose tissue inflammation or by the common I148M variant in PNPLA3 at rs738409. | 27929200 |