PNPLA2

Chr 11

patatin like domain 2, triacylglycerol lipase

Also known as: 1110001C14Rik, ATGL, FP17548, PEDF-R, TTS-2.2, TTS2, iPLA2zeta

NCBI Gene: 57104 ENSG00000177666 UniProt: Q96AD5

The protein catalyzes the initial step in triglyceride hydrolysis in lipid droplets and plays a key role in energy homeostasis by breaking down stored fats. Mutations cause neutral lipid storage disease with myopathy, an autosomal recessive disorder characterized by abnormal lipid accumulation affecting muscle tissue. The gene is not highly constrained against loss-of-function variants.

ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes an enzyme which catalyzes the first step in the hydrolysis of triglycerides in adipose tissue. Mutations in this gene are associated with neutral lipid storage disease with myopathy. [provided by RefSeq, Jul 2010]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtNeutral lipid storage disease with myopathy

Clinical highlights

Gene-disease validity (ClinGen)

neutral lipid storage myopathy · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.74

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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