{"symbol":"MALT1","synonyms":["MLT1","PCASP1","IMD12","MLT"],"name":"MALT1 paracaspase","description":"This gene encodes a caspase-like protease that plays a role in BCL10-induced activation of NF-kappaB. The protein is a component of the CARMA1-BCL10-MALT1 (CBM) signalosome that triggers NF-kappaB signaling and lymphoctye activation following antigen-receptor stimulation. Mutations in this gene result in immunodeficiency 12 (IMD12). This gene has been found to be recurrently rearranged in chromosomal translocations with other genes in mucosa-associated lymphoid tissue lymphomas, including a t(11;18)(q21;q21) translocation with the baculoviral IAP repeat-containing protein 3 (also known as apoptosis inhibitor 2) locus [BIRC3(API2)-MALT1], and a t(14;18)(q32;q21) translocation with the immunoglobulin heavy chain locus (IGH-MALT1). Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, May 2018]","ncbiEntrezGeneId":10892,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/10892","proteins":[{"symbol":"MALT1_HUMAN","href":"/api/1.0/protein/MALT1_HUMAN"}],"hgncRootFamilies":[{"name":"Immunoglobulin superfamily domain containing","href":"/api/1.0/gene_family/Immunoglobulin+superfamily+domain+containing"}]}