Recombinant Human Ribitol-5-phosphate xylosyltransferase 1 (RXYLT1), partial

中文名稱：

人TMEM5重組蛋白
貨號：

CSB-YP023848HU
規(guī)格：
來源：

Yeast
其他：

中文名稱：

人TMEM5重組蛋白
貨號：

CSB-EP023848HU
規(guī)格：
來源：

E.coli
其他：

中文名稱：

人TMEM5重組蛋白
貨號：

CSB-EP023848HU-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：

人TMEM5重組蛋白
貨號：

CSB-BP023848HU
規(guī)格：
來源：

Baculovirus
其他：

中文名稱：

人TMEM5重組蛋白
貨號：

CSB-MP023848HU
規(guī)格：
來源：

Mammalian cell
其他：

產(chǎn)品詳情
產(chǎn)品評價(jià)
靶點(diǎn)詳情

產(chǎn)品詳情

純度：

>85% (SDS-PAGE)
基因名：

TMEM5
Uniprot No.：

Q9Y2B1
別名：

HP10481; Putative type II membrane protein; TMEM5; TMEM5_HUMAN; Transmembrane protein 5
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(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)品評價(jià)

靶點(diǎn)詳情

功能：

UDP-xylosyltransferase involved in the biosynthesis of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1), which is required for binding laminin G-like domain-containing extracellular proteins with high affinity. Acts as a UDP-D-xylose:ribitol-5-phosphate beta1,4-xylosyltransferase, which catalyzes the transfer of UDP-D-xylose to ribitol 5-phosphate (Rbo5P) to form the Xylbeta1-4Rbo5P linkage on O-mannosyl glycan.
基因功能參考文獻(xiàn)：
1. Fukutin, FKRP, and TMEM5 form a complex while maintaining each of their enzyme activities. Data showed that endogenous fukutin and FKRP enzyme activities coexist with TMEM5 enzyme activity, and suggest the possibility that formation of this enzyme complex may contribute to specific and prompt biosynthesis of glycans that are required for dystroglycan function. PMID: 29477842
2. TMEM5 is a UDP-xylosyl transferase that elaborates the O-mannose glycan structure on alpha-dystroglycan. The authors demonstrate in a zebrafish model as well as in a human patient that defects in TMEM5 result in muscular dystrophy in combination with abnormal brain development. PMID: 27130732
3. TMEM5 acts as a UDP-d-xylose:ribitol-5-phosphate beta1,4-xylosyltransferase in the biosynthetic pathway of O-mannosyl glycan. PMID: 27733679
4. TMEM5 mutations were frequently associated with gonadal dysgenesis and neural tube defects, and ISPD mutations were frequently associated with brain vascular anomalies. PMID: 23217329
相關(guān)疾病：

Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A10 (MDDGA10)
亞細(xì)胞定位：

Golgi apparatus membrane; Single-pass type II membrane protein.
蛋白家族：

RXYLT1 family
數(shù)據(jù)庫鏈接：

HGNC: 13530

OMIM: 605862

KEGG: hsa:10329

STRING: 9606.ENSP00000261234

UniGene: Hs.216386