GJB1 expression is regulated by two alternate promoters in a tissue specific manner. In Schwann cells, expression is driven by the P2 promoter and depends on binding by SOX10, EGR2 and NAB1 or NAB2 (Neuhaus et al, 1996; Bondurand et al, 2001; Le et al, 2005; Lopez-Arido et al, 2015).
Bondurand, N, Girard, M, Pingault, V, Lemort, N, Dubourg, O, Goossens, M
Le, N, Nagarajan, R, Wang, JY, Svaren, J, LaPash, C, Araki, T, Schmidt, RE, Milbrandt, J
Lopez-Anido, C, Sun, G, Koenning, M, Srinivasan, R, Hung, HA, Emery, B, Keles, S, Svaren, J
Neuhaus, IM, Bone, L, Wang, S, Ionasescu, V, Werner, R
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