CARD12 Antibody – Polyclonal

This gene encodes a member of the caspase recruitment domain-containing NLR family. Family members play essential roles in innate immune response to a wide range of pathogenic organisms, tissue damage and other cellular stresses. Mutations in this gene result in autoinflammation with infantile enterocolitis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]

NLRC4: Key component of inflammasomes that indirectly senses specific proteins from pathogenic bacteria and fungi and responds by assembling an inflammasome complex that promotes caspase-1 activation, cytokine production and macrophage pyroptosis. 4 isoforms of the human protein are produced by alternative splicing.

Protein type: Apoptosis

Chromosomal Location of Human Ortholog: 2p22.3

Cellular Component: cytosol; intracellular; nucleus; spindle microtubule

Molecular Function: ATP binding; cysteine protease inhibitor activity; identical protein binding; magnesium ion binding; protein binding; protein homodimerization activity; ubiquitin-protein ligase activity

Biological Process: activation of innate immune response; activation of NF-kappaB transcription factor; caspase activation; defense response to bacterium; detection of bacterium; inflammatory response; innate immune response; interleukin-1 beta secretion; positive regulation of apoptosis; protein homooligomerization; protein ubiquitination; regulation of apoptosis; regulation of signal transduction

Disease: Autoinflammation With Infantile Enterocolitis; Familial Cold Autoinflammatory Syndrome 4