Edar-Associated Death Domain Protein

Edar-associerat dödsdomänprotein

Engelsk definition

A tumor necrosis factor receptor-associated factor that acts as a specific signaling adaptor protein for the EDAR RECEPTOR and plays an important role in ectodermal development. It binds to edar receptor via its C-terminal death domain region and to other specific TNF receptor-associated factors via its N-terminal domain. Loss of function of edar-associated death domain protein is associated with AUTOSOMAL RECESSIVE ANHIDROTIC ECTODERMAL DYSPLASIA.

Svenska synonymer

Edaradd-protein

Engelska synonymer

Edar Associated Death Domain Protein Edaradd Protein