| The REL gene encodes c-Rel, a transcription factor that is a member of the Rel/NFKB family, which also includes RELA, RELB, NFKB1, and NFKB2. These proteins are related through a highly conserved N-terminal region termed the 'Rel domain,' which is responsible for DNA binding, dimerization, nuclear localization, and binding to the NFKB inhibitor. Members of this family regulate genes involved in apoptosis, inflammation, the immune response, and oncogenic processes. This proto-oncogene plays a role in the survival and proliferation of B lymphocytes. Mutation or amplification of this gene is associated with B-cell lymphomas, including Hodgkin's lymphoma. Single nucleotide polymorphisms in this gene are associated with susceptibility to ulcerative colitis and rheumatoid arthritis. Alternative splicing results in multiple transcript variants encoding different isoforms. |
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