Anti-PDZD7抗体-抗体-抗体-生物在线
Anti-PDZD7抗体

Anti-PDZD7抗体

商家询价

产品名称: Anti-PDZD7抗体

英文名称: PDZD7

产品编号: YB--9042R

产品价格: null

产品产地: 中国/美国

品牌商标: Ybscience

更新时间: 2023-08-17T10:29:50

使用范围: 科研使用

上海钰博生物科技有限公司
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 Anti-PDZD7抗体

产品编号 YB-9042R
英文名称 PDZD7
中文名称 PDZ结构域PDZK7蛋白抗体
别    名 PDZ domain containing 7; PDZK7; RP11-108L7.9; EG435601; OTTMUSP00000044305; 9130207N01; OTTMUSP00000044304; PDZD7_HUMAN.  
规格价格 100ul/1580元 购买    200ul/2480元 购买    大包装/询价
说 明 书 100ul  200ul
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, Chicken, Dog, Pig, Cow, Sheep, 
产品应用 WB=1:500-2000 ELISA=1:500-1000 IHC-P=1:400-800 IHC-F=1:400-800 IF=1:50-200 (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 56kDa
细胞定位 细胞核 
性    状 Lyophilized or Liquid
浓    度 1mg/ml
免 疫 原 KLH conjugated synthetic peptide derived from human PDZD7:121-220/517 
亚    型 IgG
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.
PubMed PubMed
产品介绍 background:
PDZK7, also known as PDZD7, is a 517 amino acid protein that contains two PDZ (DHR) domains. Encoded by a gene that maps to human chromosome 10q24.31, PDZK7 is conserved in dog, mouse and rat, and exists as three alternatively spliced isoforms. PDZK7 is known to interact with Harmonin, MASS1, USH1G and Usherin. Localizing to nucleus, PDZK7 is expressed in retinal pigment epithelium and inner ear. Biallelic inactivation of PDZK7 can cause non-syndromic hearing impairment and chromosomal aberrations, which are linked to non-syndromic sensorineural deafness. PDZK7 mutations are also linked to Usher syndrome, which is characterized by retinitis pigmentosa and sensorineural deafness, and Alzheimer disease. The gene that encodes PDZK7 maps to human chromosome 10q24.31.

Subunit:
Interacts with USH1G. Interacts with GPR98. Interacts with USH2A. 

Subcellular Location:
Cell projection; cilium. Nucleus.

Tissue Specificity:
Weakly expressed in the inner ear. Expressed in the retinal pigment epithelium. 

DISEASE:
Note=A chromosomal aberration disrupting PDZD7 has been found in patients with non-syndromic sensorineural deafness. Translocation t(10;11),t(10;11). 
Defects in PDZD7 are a cause of Usher syndrome type 2C (USH2C) [MIM:605472]. USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with 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. Note=PDZD7 mutations have been found in combination with mutations in USH2A and GPR98 in patients affected by Usher syndrome, suggesting a role as contributor to digenic Usher syndrome or a modifier of retinal disease expression. 

Similarity:
Contains 2 PDZ (DHR) domains. 

SWISS:
Q9H5P4

Gene ID:
79955

Database links:

Entrez Gene: 79955 Human

Omim: 612971 Human

SwissProt: Q9H5P4 Human

Unigene: 438245 Human



Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications