Recombinant Human Whirlin (WHRN), partial

中文名稱：

人WHRN重組蛋白
貨號：

CSB-YP885793HU
規格：
來源：

Yeast
其他：

中文名稱：

人WHRN重組蛋白
貨號：

CSB-EP885793HU
規格：
來源：

E.coli
其他：

中文名稱：

人WHRN重組蛋白
貨號：

CSB-EP885793HU-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WHRN重組蛋白
貨號：

CSB-BP885793HU
規格：
來源：

Baculovirus
其他：

中文名稱：

人WHRN重組蛋白
貨號：

CSB-MP885793HU
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：

WHRN
Uniprot No.：

Q9P202
別名：

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
種屬：

Homo sapiens (Human)
蛋白長度：

Partial
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：

Involved in hearing and vision as member of the USH2 complex. Necessary for elongation and maintenance of inner and outer hair cell stereocilia in the organ of Corti in the inner ear. Involved in the maintenance of the hair bundle ankle region, which connects stereocilia in cochlear hair cells of the inner ear. In retina photoreceptors, required for the maintenance of periciliary membrane complex that seems to play a role in regulating intracellular protein transport.
基因功能參考文獻：
1. two novel mutations in the WHRN and TMC1 genes are responsible for founder effects of hereditary hemochromatosis, Wilson s disease, the long QT syndrome and autosomal recessive deafness in a Swedish pedigree PMID: 29270100
2. Protein-protein interaction assays and co-expression of complex partners reveal that pathogenic mutations in USH1G severely affect formation of the SANS/ush2a/whirlin complex. Translational read-through drug treatment, targeting the c.728C > A (p.S243X) nonsense mutation, restored SANS scaffold function. We conclude that USH1 and USH2 proteins function together in higher order protein complexes. PMID: 28137943
3. In Spain, USH2A and GPR98 are responsible for 95.8% and 5.2% of Usher syndrome 2 mutated cases, respectively. DFNB31 plays a minor role in the Spanish population. There was a group of patients in whom no mutation was found. PMID: 23441107
4. Mutation found in USH2A, GPR98, or DFNB31 account for the vast majority of USH2 patients and their analysis provide a robust pathway for routine molecular diagnosis. PMID: 22147658
5. A novel DFNB31 mutation associated with Usher type 2 syndrome showing variable degrees of auditory loss in a consanguineous Portuguese family. PMID: 21738389
6. DFNB31 is not a major cause of Usher syndrome. PMID: 20352026
7. This paper describes a PDZ domain protein and its role in synaptic transmission in the related rat gene. PMID: 12641734
8. This paper concludes that this protein plays a role in photoreceptor and hair cell synapse organization in the related rat gene. PMID: 16434480
9. Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31. PMID: 12833159
10. analysis of a novel genetic subtype for Usher syndrome, USH2D, which is caused by mutations in whirlin PMID: 17171570
11. Overexpression of the signal peptide whirlin isoform 2 is related to disease progression in colorectal cancer patients. PMID: 19724906
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相關疾?。?/div>
Deafness, autosomal recessive, 31 (DFNB31); Usher syndrome 2D (USH2D)
亞細胞定位：

Cytoplasm. Cell projection, stereocilium. Cell projection, growth cone. Photoreceptor inner segment. Cell junction, synapse.
數據庫鏈接：

HGNC: 16361

OMIM: 607084

KEGG: hsa:25861

STRING: 9606.ENSP00000354623

UniGene: Hs.93836