Immunogen sequence: EYSNCGENEY YNQTTGLCQE CPPCGPGEEP YLSCGYGTKD EDYGCVPCPA EKFSKGGYQI CRRHKDCEGF FRATVLTPGD MENDAECGPC LPGYYMLENR PRNIYGMVCY SCLLAPPNTK ECVGATSGAS ANFPGTSGSS TLSPFQHAHK ELSGQGHLAT A; Positive Samples: 293T, LO2, SW480; Cellular Location: Membrane, Single-pass type I membrane protein
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.
蛋白别名: Anhidrotic ectodysplasin receptor 1; Downless homolog; downless, mouse, homolog of; Ectodermal dysplasia receptor; ectodysplasin 1, anhidrotic receptor; Ectodysplasin-A receptor; EDA-A1 receptor; Tumor necrosis factor receptor superfamily member EDAR
基因别名: DL; ECTD10A; ECTD10B; ED1R; ED3; ED5; EDA-A1R; EDA1R; EDA3; EDAR; HRM1
UniProt ID: (Human) Q9UNE0
Entrez Gene ID: (Human) 10913