PYCARD

Chr 16

PYD and CARD domain containing

Also known as: ASC, CARD5, TMS, TMS-1, TMS1

NCBI Gene: 29108 ENSG00000103490 UniProt: Q9ULZ3 OMIM: 606838

The protein functions as a key adapter in inflammasome assembly and caspase-mediated apoptosis, mediating innate immune responses and inflammatory signaling pathways. Mutations cause autoinflammatory disorders with autosomal recessive inheritance, typically presenting with early-onset recurrent fever, skin rash, and arthritis. The gene shows low constraint to loss-of-function variants (pLI 0.0002, LOEUF 1.9), consistent with recessive inheritance patterns.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes an adaptor protein that is composed of two protein-protein interaction domains: a N-terminal PYRIN-PAAD-DAPIN domain (PYD) and a C-terminal caspase-recruitment domain (CARD). The PYD and CARD domains are members of the six-helix bundle death domain-fold superfamily that mediates assembly of large signaling complexes in the inflammatory and apoptotic signaling pathways via the activation of caspase. In normal cells, this protein is localized to the cytoplasm; however, in cells undergoing apoptosis, it forms ball-like aggregates near the nuclear periphery. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.90

LOEUF

Multiple*

Mechanism· predicted