常染色体隐性遗传性耳聋型31蛋白抗体

英文名称    DFNB31    

中文名称    常染色体隐性遗传性耳聋型31蛋白抗体    

别    名    1110035G07Rik; Autosomal recessive deafness type 31 protein; CASK interacting protein CIP98; CIP 98; CIP98; Deafness autosomal recessive 31; DFNB 31; DKFZp434N014; KIAA1526; RP11 9M16.1; USH 2D; USH2D; Whirlin; WHRN; WHRN_HUMAN; WI.    

说 明 书    0.2ml      

研究领域    细胞生物  免疫学  神经生物学      

抗体来源    Rabbit    

克隆类型    Polyclonal    

交叉反应    Human, Mouse, Rat, Cow, Horse, Rabbit, 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31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    96kDa    

细胞定位    细胞核 细胞浆     

性    状    Lyophilized or Liquid    

浓    度    1mg/1ml    

免 疫 原    KLH conjugated synthetic peptide derived from human DFNB31    

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31蛋白抗体产品介绍    background:

This gene is thought to function in the organization and stabilization of sterocilia elongation and actin cystoskeletal assembly, based on studies of the related mouse gene. Mutations in this gene have been associated with autosomal recessive non-syndromic deafness and Usher Syndrome. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Mar 2010]

Function:
Necessary for elongation and maintenance of inner and outer hair cell stereocilia in the organ of Corti in the inner ear.

Subcellular Location:
Cytoplasm. Cell projection > stereocilium. Cell projection > growth cone. Detected at the level of stereocilia in inner outer hair cells of the cochlea and vestibule. Co-localizes with the growing ends of actin filaments (By similarity). Colocalizes with MPP1 in the retina, at the outer limiting membrane (OLM), outer plexifirm layer (OPL), basal bodies and at the connecting cilium.

DISEASE:
Defects in WHRN are the cause of deafness autosomal recessive type 31 (DFNB31) [MIM:607084]. DFNB31 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 WHRN are the cause of Usher syndrome type 2D (USH2D) [MIM:611383]. USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa and sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH2 is characterized by congenital mild hearing impairment with normal vestibular responses.

Similarity:
Contains 3 PDZ (DHR) domains.

Gene ID:
25861    

常染色体隐性遗传性耳聋型31蛋白抗体

hz-0945P-hzy3 Albumin /Cy3  荧光素Cy3标记人血白蛋白

hz-2179P-hzy3 AACT/Cy3  荧光素Cy3标记胰糜蛋白酶

hz-0294P-A555 Goat IgG/Alexa Fluor 555  Alexa Fluor 555标记羊IgG(细胞流式同型对照)

hz-0293P-A555 Rat IgG/Alexa Fluor 555  Alexa Fluor 555标记大鼠IgG(细胞流式同型对照)

hz-0292P-hzy5 BSA/Cy5  荧光素Cy5标记牛血清白蛋白

hze-0311P Biotin/HRP  辣根过氧化物酶标记生物素

hze-0312P Avidin/HRP  辣根过氧化物酶标记亲合素

hze-0360G Goat Anti-human IgA/HRP  辣根过氧化物酶标记羊抗人IgA

hze-0302R Rabbit Anti-HRP/HRP  辣根过氧化物酶标记兔抗HRP

hze-0360R Rabbit Anti-human IgA/HRP  辣根过氧化物酶标记兔抗人IgA

hze-0437P Streptavidin/HRP  辣根过氧化物酶标记链霉亲和素

hze-0362P Protein A/HRP  辣根过氧化物酶标记的蛋白A

hze-0292P BSA/HRP   辣根过氧化物酶标记牛血清白蛋白

hze-0361P rec Protein G/HRP  辣根过氧化物酶标记的重组蛋白G

hz-0855P-HRP Insulin/HRP  辣根过氧化物酶标记人胰岛素蛋白

hz-0311P-AP Biotin/AP  碱性磷酸酶标记生物素

hz-0312P-AP Avidin/AP  碱性磷酸酶标记亲合素

hz-0437P-AP Streptavidin/AP  碱性磷酸酶标记链霉亲和素

hz-0360G-AP Goat Anti-human IgA/AP  碱性磷酸酶标记羊抗人IgA

hz-0360R-AP Rabbit Anti-human IgA/AP  碱性磷酸酶标记兔抗人IgA

hz-0362P-AP Protein A/AP  碱性磷酸酶标记的蛋白A

hz-0292P-AP BSA/AP  碱性磷酸酶标记标记牛血清白蛋白

hz-0361P-AP rec Protein G/AP  碱性磷酸酶标记的重组蛋白G

hzb-0360G Goat Anti-human IgA/Biotin  生物素化羊抗人IgA

hza-0297R Rabbit Anti-human IgG/Streptavidin  链霉亲和素标记兔抗人IgG

hzb-0295P Rabbit IgG/Biotin  生物素化兔IgG

hzb-0297P human IgG/Biotin  生物素化人IgG

hzb-0296P mouse IgG/Biotin  生物素化小鼠IgG

hzF-0292P BSA/FITC  荧光素标记牛血清白蛋白

hzF-0366R Rb Anti-FITC/FITC  荧光素标记兔抗FITC

hzF-0360G Goat Anti-human IgA/FITC  荧光素标记羊抗人IgA

hzR-0292P BSA/RBITC  罗丹明标记牛血清白蛋白

hzR-0437P Streptavidin/RBITC  红色荧光素罗丹明标记链霉亲和素