Rabbit Anti-DFNB31/FITC Conjugated antibody
|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.|
|规格价格||100ul/2980元 购买 大包装/询价|
|说 明 书||100ul|
|研究领域||细胞生物 免疫学 神经生物学|
|交叉反应||Human, Mouse, Rat, Cow, Horse, Rabbit, Sheep,|
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.
|分 子 量||96kDa|
|性 状||Lyophilized or Liquid|
|免 疫 原||KLH conjugated synthetic peptide derived from human DFNB31|
|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.|
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]
Necessary for elongation and maintenance of inner and outer hair cell stereocilia in the organ of Corti in the inner ear.
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.
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.
Contains 3 PDZ (DHR) domains.
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
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications