ⓘ EDARADD

                                     

ⓘ EDARADD

This gene was identified by its association with ectodermal dysplasia,and specifically with hypohidrotic ectodermal dysplasia, a genetic disorder characterized by defective development of hair, teeth, and eccrine sweat glands. The protein encoded by this gene is a death domain-containing protein, and is found to interact with EDAR, a death domain receptor known to be required for the development of hair, teeth and other ectodermal derivatives. This protein and EDAR are coexpressed in epithelial cells during the formation of hair follicles and teeth. Through its interaction with EDAR, this protein acts as an adaptor, and links the receptor to downstream signaling pathways. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported.

                                     
  • Mutations in the EDA, EDAR, and EDARADD genes cause hypohidrotic ectodermal dysplasia. The EDA, EDAR, and EDARADD genes provide instructions for making
  • Hypohidrotic ectodermal dysplasia can be associated with EDA, EDAR and EDARADD Margarita Island ectodermal dysplasia is associated with PVRL1. Ectodermal
  • include GGT7, RNF5, ELOVL4, GPR42, BCL2L13, HEATR1, IZUMO4, ARID1B, SIAE, EDARADD URB1, ZDHHC14, KIF11, RRM2, KCTD13, TMEM31, NDUFA3, SGPL1, CNR2, and GJA8
  • protein 3, CASP8AP2, CD134, CD137, CD27, CD40, CFLAR, CHUK, Caveolin 1, EDARADD HIVEP3, IKK2, Low affinity nerve growth factor receptor, MAP3K14, MAP3K1
  • anhidrotic, autosomal dominant 129490 EDARADD Ectodermal dysplasia, anhidrotic, autosomal recessive 224900 EDARADD Ectodermal dysplasia, anhidrotic, with