PDZ结构域PDZK7蛋白抗体
规格：1mg/1ml
英文名： PDZD7
别名： PDZ domain containing 7; PDZK7; RP11-108L7.9; EG435601; OTTMUSP; 9130207N01; OTTMUSP; PDZD7_HUMAN.
分子量： 56kDa
储存液：0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glyce
克隆类型：Polyclonal
亚型：IgG
纯化方法：affinity purified by Protein A
**原：KLH conjugated synthetic peptide derived from human PDZD7
交叉反应：Human, Mouse, Rat, Chicken, Dog, Pig, Cow, Sheep,
细胞定位：细胞核
PDZ结构域PDZK7蛋白抗体产品介绍：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 2CPDZ结构域PDZK7蛋白抗体 (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 vestibularPDZ结构域PDZK7蛋白抗体 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. 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 PDZ结构域PDZK7蛋白抗体use in human, therapeutic or diagnostic applications.
产品应用：WB=1:100-500 ELISA=1:500-1000 IHC-P=1:100-500 IHC-F=1:100-500 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.
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