PDZD7,PDZ结构域PDZK7蛋白抗体

产品编号HZ-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.
说 明 书0.1ml 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, Chicken, Dog, Pig, Cow, Sheep,
PDZD7,PDZ结构域PDZK7蛋白抗体产品应用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.
分 子 量56kDa
细胞定位细胞核
性 状Lyophilized or Liquid
浓 度1mg/1ml
免 疫 原KLH conjugated synthetic peptide derived from human PDZD7
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.
PDZD7,PDZ结构域PDZK7蛋白抗体PubMedPubMed
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.

PDZD7,PDZ结构域PDZK7蛋白抗体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.

Database links:
Entrez Gene: 79955 Human
Omim: 612971 Human
SwissProt: Q9H5P4 Human
Unigene: 438245 Human

PDZD7,PDZ结构域PDZK7蛋白抗体Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.