Aliases for EDAR Gene
External Ids for EDAR Gene
Previous HGNC Symbols for EDAR Gene
Previous GeneCards Identifiers for EDAR Gene
This gene encodes a member of the tumor necrosis factor receptor family. The encoded transmembrane protein is a receptor for the soluble ligand ectodysplasin A, and can activate the nuclear factor-kappaB, JNK, and caspase-independent cell death pathways. It is required for the development of hair, teeth, and other ectodermal derivatives. Mutations in this gene result in autosomal dominant and recessive forms of hypohidrotic ectodermal dysplasia. [provided by RefSeq, Jul 2008]
GeneCards Summary for EDAR Gene
EDAR (Ectodysplasin A Receptor) is a Protein Coding gene. Diseases associated with EDAR include ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant and ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive. Among its related pathways are Immune System and Interleukin-3, 5 and GM-CSF signaling. GO annotations related to this gene include receptor activity and transmembrane signaling receptor activity.
UniProtKB/Swiss-Prot for EDAR Gene
Receptor for EDA isoform A1, but not for EDA isoform A2. Mediates the activation of NF-kappa-B and JNK. May promote caspase-independent cell death.