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).
Nagarajan, R, Wang, JY, Araki, T, Le, N, Milbrandt, J, Svaren, J, LaPash, C, Schmidt, RE
Goossens, M, Girard, M, Pingault, V, Dubourg, O, Bondurand, N, Lemort, N
Koenning, M, Keles, S, Emery, B, Lopez-Anido, C, Sun, G, Hung, HA, Svaren, J, Srinivasan, R
Werner, R, Neuhaus, IM, Bone, L, Wang, S, Ionasescu, V
© 2022 Reactome