免 疫 原：KLH conjugated synthetic peptide derived from human Ectodysplasin-A, membrane form
抗原表位：101-200/391
抗原细胞定位：Extracellular
SWISS：Q92838
Gene ID ：1896
Human Gene ID：1896

Affected males of X-linked anhidrotic ectodermal dysplasia show hypotrichosis, abnormal teeth and absent sweat glands. Some of the patients reported by Halperin and Curtis showed mental defect also, but this is not an invariable feature. Ectodysplasin A (EDA) is a trimeric type II membrane protein that co-localizes with cytoskeletal structures at the lateral and apical surfaces of cells. EDA is expressed in hair follicles and in the epidermis of adult skin. The sequence of the longest isoform includes an interrupted collagenous domain of 19 Gly-X-Y repeats and a motif conserved in the tumor necrosis factor (TNF)-related ligand family. EDA is a member of the TNF-related ligand family involved in the early epithelial-mesenchymal interaction that regulates ectodermal appendage formation. Similar to other members of collagenous membrane proteins and members of TNF-related ligands, EDA is a type II membrane protein which forms trimers.
Function：Seems to be involved in epithelial-mesenchymal signaling during morphogenesis of ectodermal organs. Isoform 1 binds only to the receptor EDAR, while isoform 3 binds exclusively to the receptor XEDAR.
Subunit：Homotrimer. The homotrimers may then dimerize and form higher-order oligomers.
Subcellular Location：Secreted and Cell membrane.
Tissue Specificity：Not abundant; expressed in specific cell types of ectodermal (but not mesodermal) origin of keratinocytes, hair follicles, sweat glands. Also in adult heart, liver, muscle, pancreas, prostate, fetal liver, uterus, small intestine and umbilical chord.
Post-translational modifications：N-glycosylated.
Processing by furin produces a secreted form.
DISEASE：Defects in EDA are the cause of ectodermal dysplasia type 1 (ED1) [MIM:305100]; also known as Christ-Siemens-Touraine syndrome or X-linked hypohidrotic ectodermal dysplasia (XLHED). Ectodermal dysplasia defines a heterogeneous group of disorders due to ab
Similarity：Belongs to the tumor necrosis factor family.
Contains 1 collagen-like domain.
Important Note：This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.