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Mouse Anti-GNPTG Recombinant Antibody (2G11) (CBMAB-G4195-LY)

This product is antibody recognizes GNPTG. The antibody 2G11 immunoassay techniques such as: ICC, IF, IP, WB.
See all GNPTG antibodies

Summary

Host Animal
Mouse
Specificity
Cattle
Clone
2G11
Antibody Isotype
IgG2a
Application
ICC, IF, IP, WB

Basic Information

Immunogen
Mannose 6-phosphate receptor antibody was raised in mouse using purified Bovine 300 kDa CI-MPR. as the immunogen
Specificity
Cattle
Antibody Isotype
IgG2a
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
Concentration
1 mg/mL
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
N-acetylglucosamine-1-phosphotransferase, gamma subunit
Introduction
This gene encodes the gamma sunbunit of the N-acetylglucosamine-1-phosphotransferase complex. This hexameric complex, composed of alpha, beta and gamma subunits, catalyzes the first step in synthesis of a mannose 6-phosphate lysosomal recognition marker. This enzyme complex is necessary for targeting of lysosomal hydrolases to the lysosome. Mutations in the gene encoding the gamma subunit have been associated with mucolipidosis IIIC, also known as mucolipidosis III gamma.[provided by RefSeq, Feb 2010]
Entrez Gene ID
508713
UniProt ID
Q58CS8
Function
Non-catalytic subunit of the N-acetylglucosamine-1-phosphotransferase complex, an enzyme that catalyzes the formation of mannose 6-phosphate (M6P) markers on high mannose type oligosaccharides in the Golgi apparatus. Binds and presents the high mannose glycans of the acceptor to the catalytic alpha and beta subunits (GNPTAB). Enhances the rate of N-acetylglucosamine-1-phosphate transfer to the oligosaccharides of acid hydrolase acceptors.
Biological Process
Carbohydrate phosphorylation Source: UniProtKB
Cellular Location
Golgi apparatus; Secreted
Involvement in disease
Mucolipidosis type III complementation group C (MLIIIC):
Autosomal recessive disease of lysosomal hydrolase trafficking. Unlike the related diseases, mucolipidosis II and IIIA, the enzyme affected in mucolipidosis IIIC (GlcNAc-phosphotransferase) retains full transferase activity on synthetic substrates but lacks activity on lysosomal hydrolases. Typical clinical findings include stiffness of the hands and shoulders, claw-hand deformity, scoliosis, short stature, coarse facies, and mild mental retardation. Radiographically, severe dysostosis multiplex of the hip is characteristic and frequently disabling. The clinical diagnosis can be confirmed by finding elevated serum lysosomal enzyme levels and/or decreased lysosomal enzyme levels in cultured fibroblasts.
Defects in GNPTG have been suggested to play a role in susceptibility to persistent stuttering. Stuttering is a common speech disorder characterized by repetitions, prolongations, and interruptions in the flow of speech.
PTM
Cys-245 mediates the formation of the interchain disulfide bond for formation of the homodimer. Cys-142, Cys-157 and Cys-169 are involved in intramolecular disulfide bonds formation (By similarity).

Sylvester, C., Kundapur, R., & Maruthy, S. (2022). Determination of regulatory motifs and pathogenicity of intronic variants of GNPTAB, GNPTG, and NAGPA genes in individuals with stuttering. Bulletin of the National Research Centre, 46(1), 282.

Eissa, N. R., Essawi, M. L., Abdel-Salam, G. M., Hassan, H. A., Fateen, E. M., & Temtamy, S. A. (2022). Expanding the genetic spectrum of Mucolipidosis in Egyptian patients: Recurrent and novel GNPTAB and GNPTG genes variants. Middle East Journal of Medical Genetics, 11(1), 1-11.

Di Lorenzo, G., Westermann, L. M., Yorgan, T. A., Stürznickel, J., Ludwig, N. F., Ammer, L. S., ... & Pohl, S. (2021). Pathogenic variants in GNPTAB and GNPTG encoding distinct subunits of GlcNAc-1-phosphotransferase differentially impact bone resorption in patients with mucolipidosis type II and III. Genetics in Medicine, 23(12), 2369-2377.

Gunasekaran, N. D., Jayasankaran, C., Justin Margret, J., Krishnamoorthy, M., & Srisailapathy, C. S. (2021). Evaluation of recurrent GNPTAB, GNPTG, and NAGPA variants associated with stuttering. Advanced Genetics, 2(2), e10043.

Doğan, M., Eröz, R., Terali, K., Gezdirici, A., & Bolu, S. (2021). Clinical, radiological and computational studies on two novel GNPTG variants causing mucolipidosis III gamma phenotypes with varying severity. Molecular Biology Reports, 48(2), 1465-1474.

CR, S., Nandhini, G., Jeffrey, J. M., & KRISHNAMOORTHY, M. (2020). Recurrence of reported GNPTAB, GNPTG and NAGPA gene variations associated with stuttering-an evaluation. Authorea Preprints.

Velho, R. V., Harms, F. L., Danyukova, T., Ludwig, N. F., Friez, M. J., Cathey, S. S., ... & Pohl, S. (2019). The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations. Human Mutation, 40(7), 842-864.

Kazemi, N., Estiar, M. A., Fazilaty, H., & Sakhinia, E. (2018). Variants in GNPTAB, GNPTG and NAGPA genes are associated with stutterers. Gene, 647, 93-100.

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

Custom Antibody Labeling

We also offer labeled antibodies developed using our catalog antibody products and nonfluorescent conjugates (HRP, AP, Biotin, etc.) or fluorescent conjugates (Alexa Fluor, FITC, TRITC, Rhodamine, Texas Red, R-PE, APC, Qdot Probes, Pacific Dyes, etc.).

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