Recombinant Human 5-taurinomethyluridine-[tRNA] synthase subunit MTO1, mitochondrial (MTO1 CGI-02)

中文名稱：
貨號：

CSB-YP015191HU
說明書：

MSDS Datasheet
規格：
來源：

Yeast
其他：

中文名稱：
貨號：

CSB-EP015191HU
說明書：

MSDS Datasheet
規格：
來源：

E.coli
其他：

中文名稱：
貨號：

CSB-EP015191HU-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：
貨號：

CSB-BP015191HU
說明書：

MSDS Datasheet
規格：
來源：

Baculovirus
其他：

中文名稱：
貨號：

CSB-MP015191HU
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：

MTO1
Uniprot No.：

Q9Y2Z2
別名：

5-taurinomethyluridine-[tRNA] synthase subunit MTO1, mitochondrial; Mitochondrial tRNA translation optimization 1; Protein MTO1 homolog, mitochondrial; MTO1 CGI-02
種屬：

Homo sapiens (Human)
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：

Liquid or Lyophilized powder Warning: in_array() expects parameter 2 to be array, null given in /www/web/cusabio_cn/public_html/caches/caches_template/default/content/show_product_protein.php on line 662
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 the 5-carboxymethylaminomethyl modification (mnm(5)s(2)U34) of the wobble uridine base in mitochondrial tRNAs.
基因功能參考文獻：
1. Two novel variants (c.[253G > A];[938G > A]) in the MTO1 gene were identified in a child with cardiomyopathy with early-onset brain disease. PMID: 29440775
2. MTO1 deficiency is lethal in some but not all cases, and a genotype-phenotype relation is suggested. Aside from lactic acidosis and cardiomyopathy, developmental delay and other phenotypic features affecting multiple organ systems are often present in these patients, suggesting a broader spectrum than hitherto reported. PMID: 29331171
3. Defects in the mitochondrial tRNA modification enzymes MTO1 and GTPBP3 promote different metabolic reprogramming through a HIF-PPARgamma-UCP2-AMPK axis. PMID: 29348686
4. Whole-exome sequencing (WES) indicated a double homozygous mutation in the mitochondrial tRNA translation optimization 1 protein (MTO1) gene (p.R504C and p.V557M) in two of the patients and the homozygous mutation p.R504C in the other. PMID: 27256614
5. Optic neuropathy, cardiomyopathy, and cognitive disability was found in patients with a homozygous mutation in the nuclear MTO1 and a mitochondrial MT-TF variant. PMID: 26061759
6. MTO1 mediates tRNA modification and controls mitochondrial translation rate in a highly tissue-specific manner associated with tissue-specific oxidative phosphorylation defects. PMID: 25552653
7. Results show that post-transcriptional expression of GTPBP3, MTO1 and TRMU genes is down-regulated, leading to mt-tRNA hypomodification and contributing to mitochondrial dysfunction in MELAS cybrids. PMID: 25149473
8. Nuclear-encoded mitochondrial MTO1 and MRPL41 are regulated in an opposite epigenetic mode based on estrogen receptor status in breast cancer. PMID: 24160266
9. MTO1 mutations are commonly associated with a presentation of hypertrophic cardiomyopathy, lactic acidosis, and MRC deficiency. PMID: 23929671
10. MTO1 mutations have roles in hypertrophic cardiomyopathy and lactic acidosis PMID: 22608499
11. identification of full-length cDNA and elucidation of genomic organization of the human MTO1 homolog PMID: 12011058
12. Phenotype of non-syndromic deafness associated with the mitochondrial A1555G mutation is modulated by mitochondrial RNA modifying enzymes MTO1 and GTPBP3. PMID: 15542390
13. proposed linkage in chromosome 8 and the association with TRMU and MTO1 genes were studied in A1555G deafness PMID: 18391568
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相關疾病：

Combined oxidative phosphorylation deficiency 10 (COXPD10)
亞細胞定位：

Mitochondrion.
蛋白家族：

MnmG family
組織特異性：

Ubiquitously expressed in various tissues, but with a markedly elevated expression in tissues of high metabolic rates including cochlea.
數據庫鏈接：

HGNC: 19261

OMIM: 614667

KEGG: hsa:25821

UniGene: Hs.347614