PNPLA7

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Description

The PNPLA7 (patatin like phospholipase domain containing 7) is a protein-coding gene located on chromosome 9.

PNPLA7 is a lysophospholipase that primarily breaks down unsaturated lysophosphatidylcholine (C18:1), producing glycerophosphocholine. It can also, to a lesser extent, break down lysophosphatidylethanolamine (C18:1), lysophosphatidyl-L-serine (C18:1) and lysophosphatidic acid (C16:0).

PNPLA7 is also known as C9orf111, NTE-R1, NTEL1.

Associated Diseases

• peripheral neuropathy, autosomal recessive, with or without impaired intellectual development
• mulibrey nanism
• obesity due to melanocortin 4 receptor deficiency
• CIDEC-related familial partial lipodystrophy
• asthma
• LIPE-related familial partial lipodystrophy
• obesity due to prohormone convertase I deficiency
• obesity due to pro-opiomelanocortin deficiency
• familial partial lipodystrophy, Dunnigan type
• PLIN1-related familial partial lipodystrophy
• thyroid hormone metabolism, abnormal 1
• AKT2-related familial partial lipodystrophy
• hyperinsulinism due to HNF1A deficiency
• PPARG-related familial partial lipodystrophy