间隙连结蛋白50/白内障相关蛋白抗体
规格：1尘驳/1尘濒
英文名： GJA8
别名： CAE; CAE1; cataract, zonular pulverulent 1 (FY-linked); Connexin 50; Connexin50; Connexin-50; Cx50; CXA8_HUMAN; Gap junction alpha 8 protein; Gap junction alpha-8 protein; Gap junction membrane channe
分子量： 48kDa
储存液：0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glyce
克隆类型：笔辞濒测肠濒辞苍补濒
亚型：滨驳骋
纯化方法：affinity purified by Protein A
**原：KLH conjugated synthetic peptide derived from human GJA8/Con
交叉反应：Human, Mouse, Rat, Chicken, Dog, Cow, Rabbit, Sheep,
细胞定位：细胞膜
间隙连结蛋白50/白内障相关蛋白抗体产物介绍：background: The connexin family of proteins form hexameric complexes called “connexons” that facilitate movement of low molecular weight proteins between cells via gap junctions (1). Connexin proteins share a common topology of 4 transmembrane alpha-helical domains, two extracellular loops, a cytoplasmic loop, and cytoplasmic N- and C-termini (2). Many of the key functional differences arise from specific amino-acid substitutions in the most highly conserved domains, the transmembrane and extracellular regions (2). Each of the approximately 20 connexin isoforms produces channels with distinct permeabilities and electrical and chemical sensitivities; therefore, one connexin usually cannot fully substitute for another (2). Consequently, a wide variety of malignant phenotypes associate with decreased connexin expression and gap junction communication, dependent on the particular connexin that is effected (3, 2). For instance, deletion of the gene encoding connexin 50, normally expressed in the lens, produces cataracts, though not as severe as with deletion of connexin 46 (4). 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. This particular connexin only forms junctional间隙连结蛋白50/白内障相关蛋白抗体 channels. Subcellular Location: Cell membrane. Cell junction; gap junction. Tissue Specificity: Eye lens. DISEASE: Defects in GJA8 are the cause of cataract zonular pulverulent type 1 (CZP1) [MIM:116200]. A form of zonular cataract. Zonular or lamellar cataracts are opacities, broad or narrow, usually consisting of powdery white dots affecting only certain layers or zones between the cortex and nucleus of an otherwise clear lens. The opacity may be so dense as to render the entire central region of the lens completely opaque, or so translucent that vision is hardly if at all impeded. Zonular cataracts generally do not involve the embryonic nucleus, though sometimes they involve the fetal nucleus. Usually 间隙连结蛋白50/白内障相关蛋白抗体sharply separated from a clear cortex outside them, they may have projections from their outer edges known as riders or spokes. Defects in GJA8 are the cause of cataract-microcornea syndrome (CAMIS) [MIM:116150]. Cataract-microcornea syndrome is characterized by the association of congenital cataract and microcornea without any other systemic anomaly or dysmorphism. Clinical findings include a corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye, and an inherited cataract, which is most often bilateral posterior polar with opacification in the lens periphery. The cataract progresses to form a total cataract after visual maturity has been achieved, requiring cataract extraction in the first to third decade of life. Microcornea-cataract syndrome can be associated with other rare ocular manifestations, including myopia, iris coloboma, sclerocornea and Peters anomaly. Transmission is in most cases autosomal dominant, but cases of autosomal recessive transmission have recently been described. Similarity: Belongs to the connexin family. Alpha-type (group II) subfamily. Database links: UniProtKB/Swiss-Prot: P48165.3 Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
间隙连结蛋白50/白内障相关蛋白抗体产物应用：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 神经生物学 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