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Mouse Anti-GMPPB Recombinant Antibody (CBLG1-147) (CBMAB-G0561-LY)

This product is antibody recognizes GMPPB. The antibody CBLG1-147 immunoassay techniques such as: ELISA, IHC, WB.
See all GMPPB antibodies

Summary

Host Animal
Mouse
Specificity
Human
Clone
CBLG1-147
Antibody Isotype
IgG2b
Application
ELISA, IHC, WB

Basic Information

Specificity
Human
Antibody Isotype
IgG2b
Clonality
Monoclonal
Application Notes
The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Formulations & Storage [For reference only, actual COA shall prevail!]

Format
Liquid
Preservative
0.09% sodium azide
Purity
> 95% Purity determined by SDS-PAGE.
Storage
Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freezethaw cycles.

Target

Full Name
GDP-mannose pyrophosphorylase B
Introduction
This gene is thought to encode a GDP-mannose pyrophosphorylase. The encoded protein catalyzes the conversion of mannose-1-phosphate and GTP to GDP-mannose, a reaction involved in the production of N-linked oligosaccharides. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jan 2009]
Entrez Gene ID
29925
UniProt ID
Q9Y5P6
Alternative Names
GDP-Mannose Pyrophosphorylase B; GTP-Mannose-1-Phosphate Guanylyltransferase Beta; Mannose-1-Phosphate Guanyltransferase Beta; EC 2.7.7.13; MDDGA14; MDDGB14; MDDGC14;
Function
Catalyzes the formation of GDP-mannose, an essential precursor of glycan moieties of glycoproteins and glycolipids.
Biological Process
GDP-mannose biosynthetic process Source: UniProtKB
Cellular Location
Cytoplasm
Involvement in disease
Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A14 (MDDGA14):
An autosomal recessive disorder characterized by congenital muscular dystrophy associated with brain anomalies, eye malformations, and profound mental retardation. The disorder includes a severe form designated as Walker-Warburg syndrome and a less severe phenotype known as muscle-eye-brain disease. MDDGA14 features include increased muscle tone, microcephaly, cleft palate, feeding difficulties, severe muscle weakness, sensorineural hearing loss, cerebellar hypoplasia, ataxia, and retinal dysfunction.
Muscular dystrophy-dystroglycanopathy congenital with mental retardation B14 (MDDGB14):
A congenital muscular dystrophy characterized by severe muscle weakness apparent in infancy and mental retardation. Some patients may have additional features, such as microcephaly, cardiac dysfunction, seizures, or cerebellar hypoplasia.
Muscular dystrophy-dystroglycanopathy limb-girdle C14 (MDDGC14):
An autosomal recessive form of muscular dystrophy characterized by mild proximal muscle weakness with onset in early childhood. Some patients may have additional features, such as mild intellectual disability or seizures.

Chompoopong, P., & Milone, M. (2023). GDP-Mannose Pyrophosphorylase B (GMPPB)-Related Disorders. Genes, 14(2), 372.

Polavarapu, K., Mathur, A., Joshi, A., Nashi, S., Preethish-Kumar, V., Bardhan, M., ... & Faruq, M. (2021). A founder mutation in the GMPPB gene [c. 1000G> A (p. Asp334Asn)] causes a mild form of limb-girdle muscular dystrophy/congenital myasthenic syndrome (LGMD/CMS) in South Indian patients. neurogenetics, 22, 271-285.

Zheng, L., Liu, Z., Wang, Y., Yang, F., Wang, J., Huang, W., ... & Jia, D. (2021). Cryo-EM structures of human GMPPA–GMPPB complex reveal how cells maintain GDP-mannose homeostasis. Nature Structural & Molecular Biology, 28(5), 1-12.

Liu, Z., Wang, Y., Yang, F., Yang, Q., Mo, X., Burstein, E., ... & Tu, Y. (2021). GMPPB-congenital disorders of glycosylation associate with decreased enzymatic activity of GMPPB. Molecular Biomedicine, 2, 1-11.

Sun, L., Shen, D., Xiong, T., Zhou, Z., Lu, X., & Cui, F. (2020). Limb-girdle muscular dystrophy due to GMPPB mutations: A case report and comprehensive literature review. Bosnian Journal of Basic Medical Sciences, 20(2), 275.

Tian, W. T., Zhou, H. Y., Zhan, F. X., Zhu, Z. Y., Yang, J., Chen, S. D., ... & Cao, L. (2019). Lysosomal degradation of GMPPB is associated with limb‐girdle muscular dystrophy type 2T. Annals of Clinical and Translational Neurology, 6(6), 1062-1071.

Nicolau, S., Liewluck, T., Shen, X. M., Selcen, D., Engel, A. G., & Milone, M. (2019). A homozygous mutation in GMPPB leads to centronuclear myopathy with combined pre-and postsynaptic defects of neuromuscular transmission. Neuromuscular Disorders, 29(8), 614-617.

Sarkozy, A., Torelli, S., Mein, R., Henderson, M., Phadke, R., Feng, L., ... & Muntoni, F. (2018). Mobility shift of beta-dystroglycan as a marker of GMPPB gene-related muscular dystrophy. Journal of Neurology, Neurosurgery & Psychiatry, 89(7), 762-768.

Astrea, G., Romano, A., Angelini, C., Antozzi, C. G., Barresi, R., Battini, R., ... & Santorelli, F. M. (2018). Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study. Orphanet journal of rare diseases, 13(1), 1-9.

Panicucci, C., Fiorillo, C., Moro, F., Astrea, G., Brisca, G., Trucco, F., ... & Bruno, C. (2018). Mutations in GMPPB presenting with pseudometabolic myopathy. JIMD Reports, Volume 38, 23-31.

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For research use only. Not intended for any clinical use.

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