Recombinant Human Tetratricopeptide repeat protein 7A (TTC7A), partial

中文名稱：

人TTC7A重組蛋白
貨號(hào)：

CSB-YP890754HU
說明書：

MSDS Datasheet
規(guī)格：
來源：

Yeast
其他：

中文名稱：

人TTC7A重組蛋白
貨號(hào)：

CSB-EP890754HU
說明書：

MSDS Datasheet
規(guī)格：
來源：

E.coli
其他：

中文名稱：

人TTC7A重組蛋白
貨號(hào)：

CSB-EP890754HU-B
說明書：

MSDS Datasheet
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：

人TTC7A重組蛋白
貨號(hào)：

CSB-BP890754HU
說明書：

MSDS Datasheet
規(guī)格：
來源：

Baculovirus
其他：

中文名稱：

人TTC7A重組蛋白
貨號(hào)：

CSB-MP890754HU
說明書：

MSDS Datasheet
規(guī)格：
來源：

Mammalian cell
其他：

產(chǎn)品詳情
產(chǎn)品評(píng)價(jià)
相關(guān)產(chǎn)品
靶點(diǎn)詳情

產(chǎn)品詳情

純度：

>85% (SDS-PAGE)
基因名：

TTC7A
Uniprot No.：

Q9ULT0
別名：

TTC7A; KIAA1140; TTC7Tetratricopeptide repeat protein 7A; TPR repeat protein 7A
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(chǔ)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(xiàng)：

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(píng)價(jià)

靶點(diǎn)詳情

功能：

Component of a complex required to localize phosphatidylinositol 4-kinase (PI4K) to the plasma membrane. The complex acts as a regulator of phosphatidylinositol 4-phosphate (PtdIns(4)P) synthesis. In the complex, plays a central role in bridging PI4KA to EFR3B and FAM126A, via direct interactions.
基因功能參考文獻(xiàn)：
1. TTC7A deficiency identified in a patient with overlapping features of tricho-hepato-enteric syndrome and multiple intestinal atresia with combined immune deficiency syndrome. PMID: 29174094
2. Studies indicate that mutations in the tetratricopeptide repeat domain 7A (TTC7A) gene cause a severe form of very early onset inflammatory bowel disease PMID: 27418642
3. The results further demonstrate that the skin consequences of TTC7A deficiency in mice and humans are consistent with a role of TTC7A in the balance of keratinocyte maturation, proliferation and cell death processes. PMID: 27059536
4. identified a perfectly segregating homozygous missense mutation in TTC7A in a consanguinous Turkish pedigree causing combined immunodeficiency with mild structural intestinal defects PMID: 25745186
5. Immune deficiency-related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency PMID: 25174867
6. Identify loss of function mutations in TTC7A in 5 infants with very early onset inflammatory bowel disease. PMID: 24417819
7. TTC7A deficiency results in increased Rho kinase activity, which disrupts polarity, growth, and differentiation of intestinal epithelial cells in multiple intestinal atresia. PMID: 24292712
8. These data strongly suggest that TTC7A gene defects cause combined immunodeficiency with multiple intestinal atresias. PMID: 23830146
9. Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia. PMID: 23423984
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相關(guān)疾病：

Gastrointestinal defects and immunodeficiency syndrome (GIDID)
亞細(xì)胞定位：

Cytoplasm. Cell membrane.
組織特異性：

Expressed in epithelial cells of the intestine, thymus, and pancreas (at protein level).
數(shù)據(jù)庫鏈接：

HGNC: 19750

OMIM: 243150

KEGG: hsa:57217

STRING: 9606.ENSP00000316699

UniGene: Hs.370603