Recombinant Human PDZ domain-containing protein 7 (PDZD7)

中文名稱：

人PDZD7重組蛋白
貨號：

CSB-YP872501HU
規格：
來源：

Yeast
其他：

中文名稱：

人PDZD7重組蛋白
貨號：

CSB-EP872501HU
規格：
來源：

E.coli
其他：

中文名稱：

人PDZD7重組蛋白
貨號：

CSB-EP872501HU-B
規格：
來源：

E.coli
共軛：

Avi-tag Biotinylated
E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.
其他：

中文名稱：

人PDZD7重組蛋白
貨號：

CSB-BP872501HU
規格：
來源：

Baculovirus
其他：

中文名稱：

人PDZD7重組蛋白
貨號：

CSB-MP872501HU
規格：
來源：

Mammalian cell
其他：

產品詳情
產品評價
靶點詳情

產品詳情

純度：

>85% (SDS-PAGE)
基因名：

PDZD7
Uniprot No.：

Q9H5P4
別名：

9130207N01; EG435601; OTTMUSP00000044304; OTTMUSP00000044305; PDZ domain containing 7; PDZ domain-containing protein 7; PDZD7; PDZD7_HUMAN; PDZK7; RP11-108L7.9
種屬：

Homo sapiens (Human)
蛋白長度：

full length protein
表達區域：

1-517
氨基酸序列

MAQGFAVGFD PLGLGDLSSG SLSSLSSRGH LGSDSGSTAT RYLLRKQQRL LNGPPRGIRA SSPMGRVILI NSPIEANSDE SDIIHSVRVE KSPAGRLGFS VRGGSEHGLG IFVSKVEEGS SAERAGLCVG DKITEVNGLS LESTTMGSAV KVLTSSSRLH MMVRRMGRVP GIKFSKEKTT WVDVVNRRLV VEKCGSTPSD TSSEDGVRRI VHLYTTSDDF CLGFNIRGGK EFGLGIYVSK VDHGGLAEEN GIKVGDQVLA ANGVRFDDIS HSQAVEVLKG QTHIMLTIKE TGRYPAYKEM VSEYCWLDRL SNGVLQQLSP ASESSSSVSS CASSAPYSSG SLPSDRMDIC LGQEEPGSRG PGWGRADTAM QTEPDAGGRV ETWCSVRPTV ILRDTAIRSD GPHPGRRLDS ALSESPKTAL LLALSRPRPP ITRSQSYLTL WEEKQQRKKE KSGSPGEKGA LQRSKTLMNL FFKGGRQGRL ARDGRREAWT LDSGSLAKTY PRLDIEKEMG VSPCCPG
蛋白標簽：

Tag?type?will?be?determined?during?the?manufacturing?process.

The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
產品提供形式：

Lyophilized powder
Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
復溶：

We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
儲存條件：

Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
保質期：

The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
貨期：

Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
注意事項：

Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
Datasheet ：

Please contact us to get it.

產品評價

靶點詳情

功能：

In cochlear developing hair cells, essential in organizing the USH2 complex at stereocilia ankle links. Blocks inhibition of adenylate cyclase activity mediated by ADGRV1.
基因功能參考文獻：
1. This is the first report to identify PDZD7 as an ARNSHL-associated gene in the Chinese population. Our finding could expand the pathogenic spectrum and strengthens the clinical diagnostic role of the PDZD7 gene in ARNSHL patients. PMID: 29048736
2. PDZD7 is confirmed as a bona fide autosomal recessive nonsyndromic hearing loss gene. PMID: 26849169
3. Mutations in PDZD7 cause autosomal recessive non-syndromic hearing loss. PMID: 26416264
4. Both WHRN and PDZD7 are required for the complex formation with USH2A and GPR98. PMID: 25406310
5. overexpression of another Usher syndrome protein, PDZD7, decreased the AC inhibition of the VLGR1 beta-subunit PMID: 24962568
6. PDZD7 is a scaffolding component of the ankle-link complex in stereocilia and is associated with the Usher syndrome protein network. PMID: 23055499
7. PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome. PMID: 20440071
8. PDZD7 is a new autosomal-recessive deafness-causing gene and a prime candidate gene for Usher syndrome. PMID: 19028668
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相關疾?。?/div>
Usher syndrome 2C (USH2C); Usher syndrome 2A (USH2A)
亞細胞定位：

Cell projection, cilium. Nucleus. Cell projection, stereocilium.
組織特異性：

Weakly expressed in the inner ear. Expressed in the retinal pigment epithelium.
數據庫鏈接：

HGNC: 26257

OMIM: 276901

KEGG: hsa:79955

STRING: 9606.ENSP00000359234

UniGene: Hs.438245