A ectodysplasin receptor subtype that is specific for ECTODYSPLASIN A1. It signals via the specific signaling adaptor edar-associated death domain protein. Loss of function of the edar receptor is associated with AUTOSOMAL RECESSIVE ANHIDROTIC ECTODERMAL DYSPLASIA and ectodermal dysplasia 3, anhidrotic.


Symptoms and diagnosis

Symptoms:

    


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