Recombinant Human Coiled-coil domain-containing protein 40 (CCDC40), partial

中文名稱：

Recombinant Human Coiled-coil domain-containing protein 40(CCDC40) ,partial
貨號：

CSB-YP671207HU
規(guī)格：
來源：

Yeast
其他：

中文名稱：

Recombinant Human Coiled-coil domain-containing protein 40(CCDC40) ,partial
貨號：

CSB-EP671207HU
規(guī)格：
來源：

E.coli
其他：

中文名稱：

Recombinant Human Coiled-coil domain-containing protein 40(CCDC40) ,partial
貨號：

CSB-EP671207HU-B
規(guī)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：

Recombinant Human Coiled-coil domain-containing protein 40(CCDC40) ,partial
貨號：

CSB-BP671207HU
規(guī)格：
來源：

Baculovirus
其他：

中文名稱：

Recombinant Human Coiled-coil domain-containing protein 40(CCDC40) ,partial
貨號：

CSB-MP671207HU
規(guī)格：
來源：

Mammalian cell
其他：

產(chǎn)品詳情
產(chǎn)品評價
靶點詳情

產(chǎn)品詳情

純度：

>85% (SDS-PAGE)
基因名：

CCDC40
Uniprot No.：

Q4G0X9
別名：

CCD40_HUMAN; ccdc 40; CCDC40; Coiled coil domain containing 40; Coiled-coil domain-containing protein 40; FLJ20753; FLJ32021; KIAA1640
種屬：

Homo sapiens (Human)
蛋白長度：

Partial
蛋白標(biāo)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(chǎn)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(fù)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(zhì)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(chǎn)品評價

靶點詳情

功能：

Required for assembly of dynein regulatory complex (DRC) and inner dynein arm (IDA) complexes, which are responsible for ciliary beat regulation, thereby playing a central role in motility in cilia and flagella. Probably acts together with CCDC39 to form a molecular ruler that determines the 96 nanometer (nm) repeat length and arrangements of components in cilia and flagella. Not required for outer dynein arm complexes assembly. Required for axonemal recruitment of CCDC39.
基因功能參考文獻(xiàn)：
1. A novel mutation causing primary ciliary dyskinesia was found in Japanese patients. PMID: 28939216
2. Results identified a novel mutant alleles in CCDC40 gene, which altered the protein sequence and resulted in the ultrastructural defects in the microtubule structure of cilia suggesting that CCDC40 mutation may be a cause for ciliary dyskinesia. PMID: 25619595
3. Lung disease was worse in those with IDA/CA/MTD ultrastructural defects, most of whom had biallelic mutations in ccdc40. PMID: 25493340
4. This study shows that CCDC39 and CCDC40 mutations are the major cause of Primary ciliary dyskinesia in patients with the previously termed "radial spoke defect". PMID: 23255504
5. Aiming to delineate the CCDC39/CCDC40 mutation spectrum and associated phenotypes, a large cohort of patients with IDA defects were screened. Biallelic CCDC39 or CCDC40 mutations were identified in 30/34 unrelated families with IDA defects. PMID: 22693285
6. CCDC40 mutations in humans result in a variant of primary ciliary dyskinesia characterized by misplacement of the central pair of microtubules and defective assembly of inner dynein arms and dynein regulatory complexes. PMID: 21131974
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相關(guān)疾病：

Ciliary dyskinesia, primary, 15 (CILD15)
亞細(xì)胞定位：

Cytoplasm. Cell projection, cilium.
蛋白家族：

CCDC40 family
數(shù)據(jù)庫鏈接：

HGNC: 26090

OMIM: 613799

KEGG: hsa:55036

STRING: 9606.ENSP00000380679

UniGene: Hs.202542