PNPLA4
Description
The PNPLA4 (patatin like phospholipase domain containing 4) is a protein-coding gene located on chromosome X.
PNPLA4 exhibits significant triacylglycerol lipase activity, transferring fatty acids from triglycerides to retinol, hydrolyzing retinylesters, and producing 1,3-diacylglycerol from triglycerides. It also possesses acylglycerol transacylase and phospholipase A2 activities.
PNPLA4 is also known as DXS1283E, GS2, iPLA2eta.
Associated Diseases
- hyperinsulinemic hypoglycemia, familial, 4
- cancer
- X-linked intellectual disability
- respiratory distress syndrome in premature infants
- BK-virus nephropathy
- ichthyosis
- recessive X-linked ichthyosis
