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]
Forensic Context
A study in humans demonstrated that the NLRC4 is a highly expressed diagnostic biomarker in sepsis patients compared to healthy and noninfectious individuals, validated across three bulk RNA datasets and by ELISA [Jiang et al. DOI:10.1038/s41435-024-00293-4]. A study in human skin demonstrated that the NLRC4 gene, categorized as apoptosis-related, was significantly up-regulated in thermally injured tissue compared to normal skin during the early wound repair process [Greco et al. DOI:10.1016/j.burns.2009.06.211].