外胚层发育**蛋白抗体
规格:1mg/1ml
英文名: EDA
别名: Ectodysplasin-A; Ectodermal dysplasia 1, anhidrotic; Ectodermal dysplasia protein; Ectodermal dysplasia, anhidrotic (hypohydrotic); Ectodysplasin A; Ectodysplasin A, membrane form; Ectodysplasin A, se
分子量: 24/41kDa
储存液:0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glyce
克隆类型:Polyclonal
亚型:IgG
纯化方法:affinity purified by Protein A
**原:KLH conjugated synthetic peptide derived from human Ectodysp
交叉反应:Human, Mouse, Rat, Pig, Cow, Horse,
细胞定位:细胞膜 分泌型蛋白
外胚层发育**蛋白抗体产品介绍:background: The protein encoded by the EDA gene is a type II membrane protein that can be cleaved by furin to produce a secreted form. The encoded protein, which belongs to the tumor necrosis factor family, acts as a homotrimer and may be involved in cell-cell signaling during the development of ectodermal organs. Defects in the EDA gene are a cause of ectodermal dysplasia, anhidrotic, (this is also known as X-linked hypohidrotic ectodermal dysplasia). Several transcript variants encoding many different isoforms have been found for this gene. AltName: ectodermal dysplasia protein; Ectodysplasin-A; EDA protein homolog; Tabby protein; Ectodysplasin-A, membrane form; secreted form EDA-A5. 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: Cell membrane; Single-pass type II membrane protein. Ectodysplasin-A, secreted form: Secreted. Tissue Specificity: Not abundant; expressed in specific cell types of ectodermal (but not mesodermal) origin of keratinocytes, hair follicles, sweat glands. Also in ***** heart, liver, muscle, pancreas, prostate, fetal liver, uterus, small intestine and umbilical chord. Post-translational modifications: 外胚层发育**蛋白抗体N-glycosylated. Processing by furin produces a secreted form. DISEASE: Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100]: A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. Characterized by sparse hair (atrichosis or hypotrichosis), abnormal or missing teeth and the inability to sweat due to the absence of sweat glands. It is the most common form of over 150 clinically distinct ectodermal dysplasias. Note=The disease is caused by mutations affecting the gene represented in this entry. Tooth agenesis selective X-linked 1 (STHAGX1) [MIM:313500]: A form of selective tooth agenesis, a common anomaly characterized by the congenital absence of one or more teeth. Selective tooth agenesis without associated systemic disorders has sometimes been divided into 2 types: oligodontia, defined as agenesis of 6 or more permanent teeth, and hypodontia, defined as agenesis of less than 6 teeth. The number in both cases 外胚层发育**蛋白抗体does not include absence of third molars (wisdom teeth). Note=The disease is caused by mutations affecting the gene represented in this entry. Similarity: Belongs to the tumor necrosis factor family. Contains 1 collagen-like domain. Gene ID: 1896 Database links: Entrez Gene: 1896 Human Entrez Gene: 13607 Mouse Entrez Gene: 302424 Rat Omim: 300451 Human SwissProt: Q92838 Human SwissProt: O54693 Mouse Unigene: 105407 Human Unigene: 328086 Mouse Unigene: 211298 Rat Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. Ectodermal dysplasia 1属于TNF家族成员, 为常染色体隐性遗传病。
外胚层发育**蛋白抗体产品应用:WB=1:100-500 ELISA=1:500-1000 IHC-P=1:100-500 IHC-F=1:100-500 ICC=1:100-500 IF=1:100-500 (石蜡切片需做抗原修复) not yet tested in other applications. optimal dilutions/concentrations should be determined by the end user.
研究领域:细胞生物 **学 信号转导
储存条件: Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
来源: Rabbit
外观: Lyophilized or Liquid