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Mouse Anti-COG6 Recombinant Antibody (2D8) (V2LY-1206-LY571)


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Summary

Host Animal
Mouse
Specificity
Human
Clone
2D8
Antibody Isotype
IgG2b
Application
IHC, WB

Basic Information

Immunogen
Full length human recombinant protein of human COG6 produced in HEK293T cell.
Host Species
Mouse
Specificity
Human
Antibody Isotype
IgG2b
Clonality
Monoclonal Antibody
Application Notes
ApplicationNote
WB1:2,000
IHC1:150

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

Format
Liquid
Buffer
PBS, pH 7.3, 1% BSA, 50% Glycerol
Preservative
0.02% sodium azide
Concentration
1 mg/ml
Purity
>95% as determined by analysis 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
component of oligomeric golgi complex 6
Entrez Gene ID
57511
UniProt ID
Q9Y2V7
Function
Required for normal Golgi function.
Biological Process
Endoplasmic reticulum to Golgi vesicle-mediated transport Source: Reactome
Glycosylation Source: UniProtKB
Intra-Golgi vesicle-mediated transport Source: GO_Central
Protein transport Source: UniProtKB-KW
Cellular Location
Golgi apparatus membrane
Involvement in disease
Congenital disorder of glycosylation 2L (CDG2L):
A multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. Clinical features of CDG2L include neonatal intractable focal seizures, vomiting, loss of consciousness, intracranial bleeding due to vitamin K deficiency, and death in infancy.
Shaheen syndrome (SHNS):
An autosomal recessive form of syndromic mental retardation. Affected individuals show severe intellectual disability, hypohidrosis, dental enamel hypoplasia, and hyperkeratosis of the palms and soles. Some may develop mild microcephaly.
More Infomation

Cirnigliaro, L., Bianchi, P., Sturiale, L., Garozzo, D., Mangili, G., Keldermans, L., ... & Barone, R. (2022). COG6‐CDG: Novel variants and novel malformation. Birth Defects Research.

Lugli, L., Bariola, M. C., Ferri, L., Lucaccioni, L., Bertucci, E., Cattini, U., ... & Berardi, A. (2021). Disorder of sex development associated with a novel homozygous nonsense mutation in COG6 expands the phenotypic spectrum of COG6‐CDG. American Journal of Medical Genetics Part A, 185(4), 1187-1194.

Rui, Q., Wang, J., Li, Y., Tan, X., & Bao, Y. (2020). Arabidopsis COG6 is essential for pollen tube growth and golgi structure maintenance. Biochemical and Biophysical Research Communications, 528(3), 447-452.

Komlosi, K., Gläser, S., Kopp, J., Hotz, A., Alter, S., Zimmer, A. D., ... & Fischer, J. (2020). Neonatal presentation of COG6‐CDG with prominent skin phenotype. JIMD reports, 55(1), 51-58.

Althonaian, N., Alsultan, A., Morava, E., & Alfadhel, M. (2018). Secondary hemophagocytic syndrome associated with COG6 gene defect: report and review. In JIMD Reports, Volume 42 (pp. 105-111). Springer, Berlin, Heidelberg.

Haijes, H. A., Jaeken, J., Foulquier, F., & van Hasselt, P. M. (2018). Hypothesis: lobe A (COG1–4)-CDG causes a more severe phenotype than lobe B (COG5–8)-CDG. Journal of medical genetics, 55(2), 137-142.

Márquez, A., Vidal-Bralo, L., Rodríguez-Rodríguez, L., González-Gay, M. A., Balsa, A., González-Álvaro, I., ... & Martín, J. (2017). A combined large-scale meta-analysis identifies COG6 as a novel shared risk locus for rheumatoid arthritis and systemic lupus erythematosus. Annals of the rheumatic diseases, 76(1), 286-294.

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

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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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