GSDMD

Chr 8

gasdermin D

Also known as: DF5L, DFNA5L, FKSG10, GSDMDC1

NCBI Gene: 79792 ENSG00000104518 UniProt: P57764 OMIM: 617042

Gasdermin D is a precursor of a pore-forming protein that plays a key role in host defense against pathogen infection by forming membrane pores and triggering pyroptosis (a form of inflammatory cell death). Mutations cause familial keratoderma with inflammatory lesions, inherited in an autosomal dominant pattern. This gene shows very low constraint against loss-of-function variants, suggesting such mutations are well-tolerated.

OMIM ResearchSummary from RefSeq, UniProt

Gasdermin D is a member of the gasdermin family. Members of this family appear to play a role in regulation of epithelial proliferation. Gasdermin D has been suggested to act as a tumor suppressor. Alternatively spliced transcript variants have been described. [provided by RefSeq, Oct 2009]

OMIM ResearchGenerating clinical summary…

Active trials

1957

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.45

LOEUF

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Mechanism