Recombinant Human Tumor necrosis factor receptor superfamily member EDAR (EDAR), Truncated

Uniprot Id

Q9UNE0

Target Species

Human

Target Name

EDAR

Target Full Name

Tumor necrosis factor receptor superfamily member EDAR

Target Function

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.

Target Involvement

Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant (ECTD10A); Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B)

Target Subcellular Location

Membrane; Single-pass type I membrane protein.

Target Tissue Specificity

Detected in fetal kidney, lung, skin and cultured neonatal epidermal keratinocytes. Not detected in lymphoblast and fibroblast cell lines.

Target Synonyms

Anhidrotic ectodysplasin receptor 1; DL; Downless (mouse) homolog; Downless homolog; Downless mouse homolog of; ECTD10A; ECTD10B; Ectodermal dysplasia receptor; Ectodysplasin 1 anhidrotic receptor; Ectodysplasin A receptor; Ectodysplasin A1 isoform receptor; Ectodysplasin-A receptor; ED 1R; ED 3; ED 5; ED1R; ED3; ED5; EDA 1R; EDA 3; EDA A1 receptor; EDA A1R; EDA-A1 receptor; EDA1R; EDA3; Edar; EDAR_HUMAN; HRM1; Tumor necrosis factor receptor superfamily member EDAR

Target Background

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.