GMPPB Antibody, HRP conjugated

Code CSB-PA896740LB01HU
Size US$166
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Product Details

Full Product Name
Rabbit anti-Homo sapiens (Human) GMPPB Polyclonal antibody
Uniprot No.
Target Names
GMPPB
Alternative Names
GDP mannose pyrophosphorylase B antibody; GDP-mannose pyrophosphorylase B antibody; GMPPB antibody; GMPPB_HUMAN antibody; GTP-mannose-1-phosphate guanylyltransferase beta antibody; KIAA1851 antibody; Mannose 1 phosphate guanylyltransferase antibody; Mannose-1-phosphate guanyltransferase beta antibody
Raised in
Rabbit
Species Reactivity
Human
Immunogen
Recombinant Human Mannose-1-phosphate guanyltransferase beta protein (61-360AA)
Immunogen Species
Homo sapiens (Human)
Conjugate
HRP
Clonality
Polyclonal
Isotype
IgG
Purification Method
>95%, Protein G purified
Concentration
It differs from different batches. Please contact us to confirm it.
Buffer
Preservative: 0.03% Proclin 300
Constituents: 50% Glycerol, 0.01M PBS, PH 7.4
Form
Liquid
Tested Applications
ELISA
Protocols
Troubleshooting and FAQs
Storage
Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
Lead Time
Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.

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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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