Mouse Anti-GMPPA Recombinant Antibody (CBLG1-1372) (CBMAB-G4038-LY)

This product is antibody recognizes GMPPA. The antibody CBLG1-1372 immunoassay techniques such as: WB.
See all GMPPA antibodies

Datasheet

Summary

Host Animal

Mouse

Specificity

Human

Clone

CBLG1-1372

Antibody Isotype

IgG2a

Application

Basic Information

Specificity

Human

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

GDP-mannose pyrophosphorylase A

Introduction

This gene is thought to encode a GDP-mannose pyrophosphorylase. This enzyme catalyzes the reaction which converts mannose-1-phosphate and GTP to GDP-mannose which is involved in the production of N-linked oligosaccharides. [provided by RefSeq, Jul 2008]

Entrez Gene ID

29926

UniProt ID

Q96IJ6

Alternative Names

GDP-Mannose Pyrophosphorylase A; GTP-Mannose-1-Phosphate Guanylyltransferase Alpha; GMPP-Alpha; Mannose-1-Phosphate Guanylyltransferase (GDP); Mannose-1-Phosphate Guanyltransferase Alpha; EC 2.7.7.13; EC 2.7.7; AAMR;

Function

May serve as a regulatory subunit and allow allosteric feedback inhibition of GMPPB by GDP-mannose.

Biological Process

Biosynthetic process Source: InterPro

Cellular Location

Cytoplasm. Myc-tagged GMPPA shows a diffuse cytoplasmic and nuclear pattern in transfected COS-7 cells.

Involvement in disease

Alacrima, achalasia, and mental retardation syndrome (AAMR):
An autosomal recessive disorder characterized by onset of alacrima, achalasia, and mental retardation at birth or in early infancy. More variable features include hypotonia, gait abnormalities, anisocoria, and visual or hearing deficits. The disorder shows similarity to the triple A syndrome, but patients with AAMR do not have adrenal insufficiency.

References

Geiculescu, I., Dranove, J., Cosper, G., Edmondson, A. C., Morava‐Kozicz, E., & Carter, L. B. (2022). A rare cause of infantile achalasia: GMPPA‐congenital disorder of glycosylation with two novel compound heterozygous variants. American Journal of Medical Genetics Part A, 188(8), 2438-2442.

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.

Franzka, P., Henze, H., Jung, M. J., Schüler, S. C., Mittag, S., Biskup, K., ... & Hübner, C. A. (2021). GMPPA defects cause a neuromuscular disorder with α-dystroglycan hyperglycosylation. The Journal of clinical investigation, 131(9).

Diaz, J., Kane, T. D., & Leon, E. (2020). Evidence of GMPPA founder mutation in indigenous Guatemalan population associated with alacrima, achalasia, and mental retardation syndrome. American Journal of Medical Genetics Part A, 182(3), 425-430.

Benítez, E. O., Morales, J. J., Muñoz, L. A., Hübner, C. A., & Mutchinick, O. M. (2018). A novel GMPPA mutation in two adult sisters with achalasia, alacrima, short stature, dysmorphism, and intellectual disability. Molecular Syndromology, 9(2), 110-114.

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Protocols

Please try the standard protocols which include: protocols, troubleshooting and guide.

Enzyme-linked Immunosorbent Assay (ELISA)
Flow Cytometry
Immunofluorescence (IF)
Immunohistochemistry (IHC)
Immunoprecipitation (IP)
Western Blot (WB)
Enzyme Linked Immunospot (ELISpot)
Proteogenomic
Other Protocols

Associated Products

Related Products

Mouse Anti-GMPPA Recombinant Antibody (CBLG1-1370)

Mouse Anti-GMPPA Recombinant Antibody (CBLG1-1374)

Mouse Anti-GMPPA Recombinant Antibody (CBFYH-0401)

Isotype control

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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