Recombinant Human Transmembrane protein 70, mitochondrial (TMEM70), partial

中文名稱：

人TMEM70重組蛋白
貨號：

CSB-YP883602HU1
說明書：

MSDS Datasheet
規格：
來源：

Yeast
其他：

中文名稱：

人TMEM70重組蛋白
貨號：

CSB-EP883602HU1
說明書：

MSDS Datasheet
規格：
來源：

E.coli
其他：

中文名稱：

人TMEM70重組蛋白
貨號：

CSB-EP883602HU1-B
說明書：

MSDS Datasheet
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TMEM70重組蛋白
貨號：

CSB-BP883602HU1
說明書：

MSDS Datasheet
規格：
來源：

Baculovirus
其他：

中文名稱：

人TMEM70重組蛋白
貨號：

CSB-MP883602HU1
說明書：

MSDS Datasheet
規格：
來源：

Mammalian cell
其他：

產品詳情
產品評價
相關產品
靶點詳情

產品詳情

純度：

>85% (SDS-PAGE)
基因名：

TMEM70
Uniprot No.：

Q9BUB7
別名：

TMEM70; Transmembrane protein 70, mitochondrial
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 biogenesis of mitochondrial ATP synthase.
基因功能參考文獻：
1. Chinese family with dual LQT1 and HCM phenotypes associated with tetrad heterozygous mutations in KCNQ1, MYH7, MYLK2, and TMEM70 mutations. PMID: 25825456
2. In summary, TMEM70 mutations can cause distinct ultrastructural mitochondrial degeneration and almost complete deficiency of ATP synthase but are still amenable to treatment. PMID: 26550569
3. TMEM70 deficiency is a panethnic, multisystemic disease with variable outcome depending mainly on adequate management of hyperammonaemic crises in the neonatal period and early childhood. PMID: 25326274
4. Pulmonary hypertension has rarely been reported in mitochondrial disorders and, so far, it has been described in association with TMEM70 deficiency only in one patient PMID: 24485043
5. These data indicate that the biological function of TMEM70 in the ATP synthase biogenesis may be mediated through interaction with other protein(s). PMID: 24576557
6. this study suggests that mutant TMEM70 associates in high molecular weight complexes (470-550 kDa) when expressed in Hela cells and exerts a direct action in ATP synthase biogenesis and assembly, mediating the incorporation of F1 moieties. PMID: 22986587
7. Fibroblasts from 10 patients with TMEM70 317-2A>G homozygous mutation showed a significant 82-89% decrease of ATP synthase and 50-162% increase of respiratory chain complex IV and 22-53% increase of complex III. PMID: 22433607
8. The authors report a fragmented mitochondrial network and swollen and irregularly shaped mitochondria with partial to complete loss of the cristae in fibroblasts of a patient with a novel TMEM70 gene deletion. PMID: 21945727
9. TMEM70 mutations are involved in the pathogenesis of 3-methylglutaconic acid (3-MGA) acydoses in populations of different ethnic origin and become a useful genetic marker for this disease. PMID: 21815885
10. The study identifies TMEM70 gene defect as a pan-ethnic disorder and further redefines it as the most common cause of nuclear-origin ATP synthase deficiency. PMID: 21147908
11. Complex V TMEM70 deficiency results in mitochondrial nucleoid disorganization. PMID: 20920610
12. No TMEM70 protein could be found in cells and isolated mitochondria from patients with ATP synthase deficiency due to TMEM70 c.317-single nucleotide polymorphism mutation. PMID: 20937241
13. ATP synthase deficiency with mutation in TMEM70 should be considered in the diagnosis and management of ill neonates with early onset of muscular hypotonia, HCMP and hypospadias in boys accompanied by lactic acidosis, hyperammonaemia and 3-MGC-uria. PMID: 20335238
14. TMEM70 is involved in mitochondrial ATP synthase biogenesis in higher eukaryotes. PMID: 18953340
15. Gene mapping and complementation studies have identified mutations in TMEM70 gene encoding a 30kD mitochondrial protein of unknown function as the cause of hypertrophic cardiomyopathy and encephalopathy. PMID: 19103153
顯示更多

收起更多
相關疾病：

Mitochondrial complex V deficiency, nuclear 2 (MC5DN2)
亞細胞定位：

Mitochondrion inner membrane; Multi-pass membrane protein.
蛋白家族：

TMEM70 family
數據庫鏈接：

HGNC: 26050

OMIM: 612418

KEGG: hsa:54968

STRING: 9606.ENSP00000312599

UniGene: Hs.106650