PNPLA3 gene

patatin like phospholipase domain containing 3

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Multifunctional enzyme which has both triacylglycerol lipase and acylglycerol O-acyltransferase activities.

From UniProt:

Non-alcoholic fatty liver disease 1 (NAFLD1): A condition characterized by accumulation of triglycerides in the liver. It is associated with adverse metabolic consequences, including insulin resistance and dyslipidemia. In a subset of individuals, hepatic steatosis promotes an inflammatory response in the liver, referred to as steatohepatitis, which can progress to cirrhosis and liver cancer. NAFLD is the most common form of liver disease in Western countries. [MIM:613282]

Cytogenetic Location: 22q13.31, which is the long (q) arm of chromosome 22 at position 13.31

Molecular Location: base pairs 43,923,739 to 43,947,568 on chromosome 22 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 22q13.31, which is the long (q) arm of chromosome 22 at position 13.31
  • ADPN
  • C22orf20
  • iPLA(2)epsilon