The canonical ectodysplasin (EDA) pathway

For EDAR and EDARADD autosomal mutations, it is interesting to note that dominant mutations are mainly localized in the interaction domain, resulting in impaired oligomerization and a dominant negative effect.
(A) Principal model for the EDA pathway downstream signaling: the trimeric ligand EDA binds to the trimeric receptor EDAR leading to the recruitment of the adaptor EDARADD and the formation of a complex containing EDARADD, TRAF6, TAB2, and TAK1. TAK1 activates the IKK complex (IKK1, IKK2, and NEMO) which ubiquitinates I-kappa-B, leading to the release of NF-kappa-B transcription factor. NF-kappa-B is then translocated into the nucleus to activate target genes.
(B) EDA, EDAR, and EDARADD proteins and their functional domains. Principal mutations are indicated.