常染色体隐性遗传性耳聋型31蛋白抗体
规格：1尘驳/1尘濒
英文名： DFNB31
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
分子量： 96kDa
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 DFNB31
交叉反应：Human, Mouse, Rat, Cow, Horse, Rabbit, Sheep,
细胞定位：细胞核 细胞浆
常染色体隐性遗传性耳聋型31蛋白抗体产物介绍：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:常染色体隐性遗传性耳聋型31蛋白抗体 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常染色体隐性遗传性耳聋型31蛋白抗体 (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 Database links: Entrez Gene: 25861 Human Entrez Gene: 73750 Mouse Entrez Gene: 313255 Rat Omim: 607928 Human SwissProt: Q9P202 Human SwissProt: Q80VW5 Mouse SwissProt: Q810W9 Rat Unigene: 93836 Human Unigene: 300397 Mouse Unigene: 204268 Rat 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31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 **学 神经生物学
储存条件： Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
来源： Rabbit
外观： Lyophilized or Liquid