Fig. 1
adapted from Sadier et al.
EDA signaling pathway. The trimeric EDA ligand binds to the trimeric EDAR receptor and recruits the adaptor EDARADD, which then forms a complex with TRAF6, TAB2 and TAK1. This results in activation of the IKK complex via TAK1. The activated IKK complex (NEMO, IKK1 and IKK2) ubiquitinates IκB, thereby releasing NF-κB, which can translocates into the nucleus to activate transcription of target genes. The pathway represents protein names and symbols. The HGNC gene symbols are as follows: EDA (EDA-A1), EDAR (EDAR), EDARADD (EDARADD), TRAF6 (TRAF6), MAP3K7 (TAK1), TAB2 (TAB2), CHUK (IKK1), IKBKB (IKK2), IKBKG (NEMO), NFKB1A (IκB), NFKB1 (NF-κB). The different ED types caused by variants in different genes in the EDA signaling pathway are described in red text on the right. Figure [14]