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