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The encoded protein is a component of the superelongation complex (SEC) and drives immunoglobulinsynthesis in plasma cells. Sequence variation in ELL2 has been associated with multiple myeloma and altered immunoglobulin levels.
Swaminathan B, Thorleifsson G, Jöud M, Ali M, Johnsson E, Ajore R, Sulem P, Halvarsson BM, Eyjolfsson G, Haraldsdottir V, Hultman C, Ingelsson E, Kristinsson SY, Kähler AK, Lenhoff S, Masson G, Mellqvist UH, Månsson R, Nelander S, Olafsson I, Sigurðardottir O, Steingrimsdóttir H, Vangsted A, Vogel U, Waage A, Nahi H, Gudbjartsson DF, Rafnar T, Turesson I, Gullberg U, Stefánsson K, Hansson M, Thorsteinsdóttir U, Nilsson B (May 2015). "Variants in ELL2 influencing immunoglobulin levels associate with multiple myeloma". Nat Commun. 6: 7213. Bibcode:2015NatCo...6.7213S. doi:10.1038/ncomms8213. PMC4455110. PMID26007630.