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Gene Symbol B2M
Synonyms IMD43
Gene Description B2M, beta-2-microglobulin, forms the light chain of the class I major histocompatibility complex (MHC) (PMID: 3312414) and is required for antigen presentation during the immune response (PMID: 27433843). B2M loss of function mutations have been associated with mismatch repair (MMR) deficiency in colon cancer (PMID: 28616688) and with acquired resistance to immune checkpoint inhibitors in melanoma (PMID: 27433843, PMID: 30466478).
Additional content available in CKB BOOST