背景
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],
功能
function:Plays a role in the promotion of apoptosis.,similarity:Contains 1 CARD domain.,similarity:Contains 1 NACHT domain.,similarity:Contains 14 LRR (leucine-rich) repeats.,subcellular location:Cytoplasmic filaments.,subunit:Self-associates and binds to ASC, pro-caspase-1, NOD2, BCL10 and NALP1 (NAC) by CARD-CARD interaction.,tissue specificity:Isoform 2 is expressed ubiquitously, although highly expressed in lung and spleen. Isoform 1 is highly expressed in lung, followed by leukocytes especially monocytes, lymph node, colon, brain, prostate, placenta, spleen, bone marrow and fetal liver. Isoform 4 is only detected in brain.,
