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Weak to moderate cytoplasmic and/or membranous/nuclear positivity was displayed in several testicular, renal, urothelial, thyroid and pancreatic cancers along with a few cases of colorectal, ovarian and liver cancers. Remaining malignant tissues were negative.
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]