PNPLA8

Chr 7

patatin like domain 8, phospholipase A2

Also known as: IPLA2-2, IPLA2G, MMLA, PNPLA-gamma, iPLA2gamma

NCBI Gene: 50640 ENSG00000135241 UniProt: Q9NP80

The protein is a calcium-independent phospholipase that cleaves fatty acids from membrane phospholipids and plays an essential role in maintaining mitochondrial membrane lipid composition and efficient mitochondrial bioenergetics. Mutations cause mitochondrial myopathy with lactic acidosis, which primarily affects muscle and metabolic function. Inheritance is autosomal recessive.

ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a member of the patatin-like phospholipase domain containing protein family. Members of this family are phospholipases which catalyze the cleavage of fatty acids from membrane phospholipids. The product of this gene is a calcium-independent phospholipase. Mutations in this gene have been associated with mitochondrial myopathy with lactic acidosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2015]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtMitochondrial myopathy with lactic acidosis

Clinical highlights

Gene-disease validity (ClinGen)

mitochondrial disease · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.51

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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