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EDAR12 recognises and binds to CRD1 of the extracellular domain of mouse EDAR. EDAR3 cross-reacts with EDAR derived from human, dog, rat and chicken when EDAR is fused to the glycosylphosphatidylinositol anchor of TRAILR3. EDAR is the receptor for the TNF family ligand EDA1, which is a type II transmembrane protein possessing a collagen-like domain and a C-terminal TNF-homology domain. EDAR is important for the correct development of skin appendages including hair, teeth and eccrine sweat glands. LoF mutations in the Eda gene is known to cause XLHED (X-linked hypohidrotic ectodermal dysplasia), and results in abnormal development.
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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: Anhidrotic ectodysplasin receptor 1; Downless; Downless homolog; downless, mouse, homolog of; Ectodermal dysplasia receptor; ectodysplasin 1, anhidrotic receptor; ectodysplasin A1 receptor; Ectodysplasin-A receptor; EDA-A1 receptor; receptor for tumor necrosis factor superfamily member ectodysplasin A1; Tumor necrosis factor receptor superfamily member EDAR
基因别名: DL; ECTD10A; ECTD10B; ED1R; ED3; ED5; EDA-A1R; EDA1R; EDA3; EDAR; HRM1; RGD1561714
UniProt ID: (Human) Q9UNE0, (Mouse) Q9R187
Entrez Gene ID: (Human) 10913, (Dog) 481305, (Chicken) 428015, (Rat) 365581, (Mouse) 13608