Recombinant Human Tetratricopeptide repeat protein 19, mitochondrial (TTC19)

中文名稱：

人TTC19重組蛋白
貨號：

CSB-YP724947HU
說明書：

MSDS Datasheet
規格：
來源：

Yeast
其他：

中文名稱：

人TTC19重組蛋白
貨號：

CSB-EP724947HU
說明書：

MSDS Datasheet
規格：
來源：

E.coli
其他：

中文名稱：

人TTC19重組蛋白
貨號：

CSB-EP724947HU-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TTC19重組蛋白
貨號：

CSB-BP724947HU
說明書：

MSDS Datasheet
規格：
來源：

Baculovirus
其他：

中文名稱：

人TTC19重組蛋白
貨號：

CSB-MP724947HU
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：

TTC19
Uniprot No.：

Q6DKK2
別名：

2010204O13Rik; FLJ20343; MGC138312; MGC19520; mitochondrial; RIKEN cDNA 2810460C24; Tetratricopeptide repeat protein 19; TPR repeat protein 19; Ttc 19; TTC19; TTC19_HUMAN
種屬：

Homo sapiens (Human)
蛋白長度：

full length protein
表達區域：

71-380
氨基酸序列

AAEEEEQQGA DGAAAEDGAD EAEAEIIQLL KRAKLSIMKD EPEEAELILH DALRLAYQTD NKKAITYTYD LMANLAFIRG QLENAEQLFK ATMSYLLGGG MKQEDNAIIE ISLKLASIYA AQNRQEFAVA GYEFCISTLE EKIEREKELA EDIMSVEEKA NTHLLLGMCL DACARYLLFS KQPSQAQRMY EKALQISEEI QGERHPQTIV LMSDLATTLD AQGRFDEAYI YMQRASDLAR QINHPELHMV LSNLAAVLMH RERYTQAKEI YQEALKQAKL KKDEISVQHI REELAELSKK SRPLTNSVKL
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：

Required for the preservation of the structural and functional integrity of mitochondrial respiratory complex III by allowing the physiological turnover of the Rieske protein UQCRFS1. Involved in the clearance of UQCRFS1 N-terminal fragments, which are produced upon incorporation of UQCRFS1 into the complex III and whose presence is detrimental for its catalytic activity.
基因功能參考文獻：
1. TTC19 preserves the structural and functional integrity of mitochondrial respiratory complex III. UQCRFS1 produces N-terminal polypeptides, which remain bound to holocomplex III. UQCRFS1 fragments are rapidly removed, but when TTC19 is absent they accumulate within complex III, causing its structural and functional impairment. PMID: 28673544
2. TTC19-deficient mitochondrial complex III deficiency displays substantial phenotypic variation. (Review) PMID: 25899669
3. This study showed that TTC19 deficient patients do show characteristic clinical and neuroimaging features, which may facilitate diagnosis of this yet rare disorder; normal MRC complex III activity does not exclude the diagnosis. PMID: 25887401
4. A TTC19 mutation in spinocerebellar ataxia is identified in an Asian population. PMID: 24397319
5. The mutation resulted in almost complete absence of TTC19 protein, defective assembly of CIII in muscle, and enhanced production of reactive oxygen species in cultured skin fibroblasts. PMID: 23532514
6. TTC19 is a putative cIII assembly factor whose disruption is associated with severe neurological abnormalities in humans and flies. PMID: 21278747
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相關疾病：

Mitochondrial complex III deficiency, nuclear 2 (MC3DN2)
亞細胞定位：

Mitochondrion inner membrane.
蛋白家族：

TTC19 family
數據庫鏈接：

HGNC: 26006

OMIM: 613814

KEGG: hsa:54902

STRING: 9606.ENSP00000261647

UniGene: Hs.462316