connexin 30,间隙连接蛋白30/GJB6抗体

产品编号HZ-6474R
英文名称connexin 30
中文名称间隙连接蛋白30/GJB6抗体
别 名Connexin 30; Connexin-30; Cx30; CXB6_HUMAN; DFNA3; ectodermal dysplasia 2, hidrotic (Clouston syndrome); ED2; EDH; Gap junction beta 6 protein; Gap junction beta-6 protein; gap junction protein, beta 6 (connexin 30); gap junction protein, beta 6; GJB6; HED; NSRD1.
说 明 书0.1ml 0.2ml
研究领域细胞生物 神经生物学 信号转导 细胞粘附分子
抗体来源Rabbit
克隆类型Polyclonal
交叉反应Human, Mouse, Rat, Chicken, Dog, Cow, Horse, Sheep,
connexin 30,间隙连接蛋白30/GJB6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=1:100-100 IF=1:50-200 （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.
分 子 量29kDa
细胞定位细胞膜
性 状Lyophilized or Liquid
浓 度1mg/1ml
免 疫 原KLH conjugated synthetic peptide derived from human connexin-30
亚 型IgG
纯化方法affinity purified by Protein A
储 存 液0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.
保存条件Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. The lyophilized antibody is stable at room temperature for at least one month and for greater than a year when kept at -20°C. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of antibody the antibody is stable for at least two weeks at 2-4 °C.
connexin 30,间隙连接蛋白30/GJB6抗体PubMedPubMed
产品介绍background:
The connexin family of proteins form hexameric complexes called connexons that facilitate movement of low molecular weight proteins between cells via gap junctions. Connexin proteins share a common topology of four transmembrane alpha-helical domains, two extracellular loops, a cytoplasmic loop and cytoplasmic N- and C-termini. Many of the key functional differences between connexins arise from specific amino-acid substitutions in the most highly conserved domains: the transmembrane and extracellular regions. Connexin 30, also known as GJB6 (Gap junction beta 6), ED2, EDH, HED or DFNA3, is a 261 amino acid multi-pass membrane protein that localizes to the cell junction and belongs to the connexin family. Functioning as a hexamer with other connexin proteins, connexin 30 facilitates the diffusion of low molecular weight materials from one cell to another. Defects in the gene encoding connexin 30 are the cause of ectodermal dysplasia type 2 (ED2) and non-syndromatic sensorineural deafness autosomal dominant type 3 (DFNA3), the former of which is characterized by abnormal development of ectodermal structures (such as skin and nails).

Function:
One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell.

Subunit:
A connexon is composed of a hexamer of connexins. Interacts with CNST

Subcellular Location:
Cell membrane; Multi-pass membrane protein. Cell junction, gap junction.

connexin 30,间隙连接蛋白30/GJB6抗体DISEASE:
Defects in GJB6 are the cause of ectodermal dysplasia type 2 (ED2) [MIM:129500]; also known as Clouston syndrome. Ectodermal dysplasia defines a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. ED2 is an autosomal dominant condition characterized by atrichosis, nail hypoplasia and deformities, hyperpigmentation of the skin, normal teeth, normal sweat and sebaceous gland function. Palmoplantar hyperkeratosis is a frequent features. Hearing impairment has been detected in few cases of ED2.
Defects in GJB6 are the cause of deafness autosomal recessive type 1B (DFNB1B) [MIM:612645]. DFNB1B is a form of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.
Defects in GJB6 are the cause of deafness autosomal dominant type 3B (DFNA3B) [MIM:612643].

Similarity:
Belongs to the connexin family. Beta-type (group I) subfamily.

Gene ID:
10804

Database links:
Entrez Gene: 10804 Human
Entrez Gene: 14623 Mouse
SwissProt: O95452 Human
SwissProt: P70689 Mouse

Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. 

产品图片

Tissue/cell: Rat tongue; 4% Paraformaldehyde-fixed and paraffin-embedded;  Antigen retrieval: citrate buffer ( 0.01M, pH 6.0 ), Boiling bathing for 15min; Block endogenous peroxidase by 3% Hydrogen peroxide for 30min; Blocking buffer (normal goat serum,C-0005) at 37℃ for 20 min;  Incubation: Anti-connexin 30/GJB6 Polyclonal Antibody, Unconjugated (HZ-6474R) 1:200, overnight at 4°C, followed by conjugation to the secondary antibody(SP-0023) and DAB(C-0010) staining