Recombinant Human Mannose-1-phosphate guanyltransferase beta (GMPPB)

中文名稱：

人GMPPB重組蛋白
貨號：

CSB-YP896740HU
說明書：

MSDS Datasheet
規格：
來源：

Yeast
其他：

中文名稱：

人GMPPB重組蛋白
貨號：

CSB-EP896740HU
說明書：

MSDS Datasheet
規格：
來源：

E.coli
其他：

中文名稱：

人GMPPB重組蛋白
貨號：

CSB-EP896740HU-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GMPPB重組蛋白
貨號：

CSB-BP896740HU
說明書：

MSDS Datasheet
規格：
來源：

Baculovirus
其他：

中文名稱：

人GMPPB重組蛋白
貨號：

CSB-MP896740HU
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：

GMPPB
Uniprot No.：

Q9Y5P6
別名：

GDP mannose pyrophosphorylase B; GDP-mannose pyrophosphorylase B; GMPPB; GMPPB_HUMAN; GTP-mannose-1-phosphate guanylyltransferase beta; KIAA1851; Mannose 1 phosphate guanylyltransferase ; Mannose-1-phosphate guanyltransferase beta
種屬：

Homo sapiens (Human)
蛋白長度：

full length protein
表達區域：

1-360
氨基酸序列

MKALILVGGY GTRLRPLTLS TPKPLVDFCN KPILLHQVEA LAAAGVDHVI LAVSYMSQVL EKEMKAQEQR LGIRISMSHE EEPLGTAGPL ALARDLLSET ADPFFVLNSD VICDFPFQAM VQFHRHHGQE GSILVTKVEE PSKYGVVVCE ADTGRIHRFV EKPQVFVSNK INAGMYILSP AVLQRIQLQP TSIEKEVFPI MAKEGQLYAM ELQGFWMDIG QPKDFLTGMC LFLQSLRQKQ PERLCSGPGI VGNVLVDPSA RIGQNCSIGP NVSLGPGVVV EDGVCIRRCT VLRDARIRSH SWLESCIVGW RCRVGQWVRM ENVTVLGEDV IVNDELYLNG ASVLPHKSIG ESVPEPRIIM
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：

Catalyzes the formation of GDP-mannose, an essential precursor of glycan moieties of glycoproteins and glycolipids.
基因功能參考文獻：
1. Late-onset limb-girdle muscular dystrophy caused by GMPPB mutations. PMID: 28478914
2. Study finds that the GMPPB mutation spectrum in Chinese patients may differ from that of European populations, with the mutation p.(Arg357His) most frequently found. These mutations may lead to abnormal folding of GMPPB leading to protein aggregates in the cytoplasm rather than an overall loss in protein expression. PMID: 28433477
3. Patients with GMPPB-CMS have phenotypic features aligned with CMS subtypes harbouring mutations within the early stages of the glycosylation pathway. Additional features shared with the dystroglycanopathies include myopathic features, raised Creatine Kinase levels and variable mild cognitive delay. PMID: 27147698
4. We observe that c.79G>C (p.D27H) is associated with a mild limb-girdle muscular dystrophy phenotype, whereas c.860G>A (p.R287Q) is associated with a relatively severe congenital muscular dystrophy typically involving brain development. PMID: 26310427
5. This study found mutations in GMPPB can lead to a wide spectrum of clinical features where deficit in neuromuscular transmission is the major component in a subset of cases. PMID: 26133662
6. The phenotypic spectrum of GMPPB mutations was expanded to include limb-girdle muscular dystrophies. PMID: 25681410
7. Work confirms a role for GMPPB defects in alpha-dystroglycanopathy, and suggests that glycosylation may play a role in the neuronal membrane channels or networks involved in the physiology of generalized epilepsy syndromes. PMID: 24780531
8. Individuals with GMPPB mutations have hypoglycosylated alpha-dystroglycan in muscle. These mutations cause congenital and limb-girdle muscular dystrophies. PMID: 23768512
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相關疾病：

Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A14 (MDDGA14); Muscular dystrophy-dystroglycanopathy congenital with mental retardation B14 (MDDGB14); Muscular dystrophy-dystroglycanopathy limb-girdle C14 (MDDGC14)
亞細胞定位：

Cytoplasm.
蛋白家族：

Transferase hexapeptide repeat family
數據庫鏈接：

HGNC: 22932

OMIM: 615320

KEGG: hsa:29925

UniGene: Hs.567488