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

Code CSB-YP896740HU
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Source Yeast
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Code CSB-EP896740HU
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Source E.coli
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Code CSB-EP896740HU-B
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Source E.coli
Conjugate 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.
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Code CSB-BP896740HU
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Source Baculovirus
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Code CSB-MP896740HU
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Source Mammalian cell
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Product Details

Purity >85% (SDS-PAGE)
Target Names GMPPB
Uniprot No. Q9Y5P6
Alternative Names 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
Species Homo sapiens (Human)
Expression Region 1-360
Target Protein Sequence 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
Protein Length full length protein
Tag Info The following tags are available.
N-terminal His-tagged
Tag-Free
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.
Form 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.
Buffer before Lyophilization Tris/PBS-based buffer, 6% Trehalose, pH 8.0
Reconstitution 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.
Troubleshooting
and FAQs
Protein FAQs
Storage Condition Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
Shelf Life 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.
Lead Time 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.
Notes 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.

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Target Background

Function
Catalyzes the formation of GDP-mannose, an essential precursor of glycan moieties of glycoproteins and glycolipids.
Gene References into Functions
  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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Involvement in disease 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)
Subcellular Location Cytoplasm.
Protein Families Transferase hexapeptide repeat family
Database Links

HGNC: 22932

OMIM: 615320

KEGG: hsa:29925

UniGene: Hs.567488

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