英文名称 Espin/DFNB36
中文名称 常染色体隐性遗传性耳聋型36蛋白抗体
别 名 Autosomal recessive deafness type 36 protein; deafness autosomal recessive 36; DFNB36; ESPN_HUMAN; DKFZp434A196; DKFZp434G2126; Ectoplasmic specialization protein; ESPN; LP2654.
说 明 书 0.2ml
研究领域 细胞生物 发育生物学 神经生物学 信号转导 细胞骨架
抗体来源 Rabbit
克隆类型 Polyclonal
交叉反应 Human, Mouse, Rat, Dog, Pig, Cow, Sheep,
产品应用 WB=1:100-500 ELISA=1:500-1000 IP=1:20-100 IHC-P=1:100-500 IHC-F=1:100-500 ICC=1:100-500 IF=1:100-500 常染色体隐性遗传性耳聋型36蛋白抗体(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 92kDa
细胞定位 细胞浆
性 状 Lyophilized or Liquid
浓 度 1mg/1ml
免 疫 原 KLH conjugated synthetic peptide derived from human Espin/DFNB36
亚 型 IgG
纯化方法 affinity purified by Protein A
储 存 液 Preservative: 15mM Sodium Azide, Constituents: 1% BSA, 0.01M PBS, pH 7.4
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.
常染色体隐性遗传性耳聋型36蛋白抗体产品介绍 background:
This gene encodes a multifunctional actin-bundling protein. It plays a major role in regulating the organization, dimensions, dynamics, and signaling capacities of the actin filament-rich, microvillus-type specializations that mediate sensory transduction in various mechanosensory and chemosensory cells. Mutations in this gene are associated with autosomal recessive neurosensory deafness, and autosomal dominant sensorineural deafness without vestibular involvement. [provided by RefSeq, Nov 2009]
Function:
Espin is a multifunctional actin bundling protein. It plays a major role in regulating the organization, dimensions, dynamics and signaling capacities of the actin filament rich, microvillus type specializations that mediate sensory transduction in various mechanosensory and chemosensory cells.
Subunit:
Monomer (By similarity). Binds F-actin in a Ca(2+)-resistant fashion (By similarity). Interacts (via N-terminal) with BAIAP2 (via SH3-domain) (By similarity). Interacts with PFN2 (By similarity).
Subcellular Location:
Cytoplasm, cytoskeleton. Cell projection, stereocilium. Cell projection, microvillus.
DISEASE:
Deafness, autosomal recessive, 36, with or without vestibular involvement (DFNB36) [MIM:609006]: A form of non-syndromic 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. DFNB36 is characterized by prelingual, profound hearing loss, and vestibular areflexia in some patients. Note=The disease is caused by mutations affecting the gene represented in this entry.
Similarity:
Contains 9 ANK repeats.
Contains 1 WH2 domain.
Gene ID:
83715
Database links:
Entrez Gene: 83715 Human
Omim: 606351 Human
SwissProt: B1AK53 Human
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
常染色体隐性遗传性耳聋型36蛋白抗体
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