PNPLA5

Chr 22

patatin like domain 5, triacylglycerol lipase

Also known as: GS2L, dJ388M5, dJ388M5.4

NCBI Gene: 150379 ENSG00000100341 UniProt: Q7Z6Z6 OMIM: 611589

The encoded protein is a triacylglycerol lipase that inhibits transacylation and belongs to the patatin-like phospholipase family. This gene is highly constrained against loss-of-function variants, suggesting that mutations would likely cause significant developmental or neurological phenotypes, though specific associated diseases have not yet been established in the clinical literature. Further research is needed to define the clinical consequences of PNPLA5 mutations.

OMIM ResearchSummary from RefSeq, UniProt

This gene is a member of the patatin-like phospholipase family; its encoded protein has been shown to inhibit transacylation. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Apr 2010]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

1.05

LOEUF

Multiple*

Mechanism· predicted