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Mouse Anti-ITGA2B Recombinant Antibody (CBYY-I0312) (CBMAB-I0841-YY)


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Summary

Host Animal
Mouse
Specificity
Human
Clone
CBYY-I0312
Antibody Isotype
IgG1
Application
FC, IF

Basic Information

Specificity
Human
Antibody Isotype
IgG1
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
Buffer
0.2% high-grade protease free BSA, pH 7.4
Preservative
15 mM sodium azide
Storage
Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freeze/thaw cycles.

Target

Full Name
Integrin Subunit Alpha 2b
Introduction
This gene encodes a member of the integrin alpha chain family of proteins. The encoded preproprotein is proteolytically processed to generate light and heavy chains that associate through disulfide linkages to form a subunit of the alpha-IIb/beta-3 integrin cell adhesion receptor. This receptor plays a crucial role in the blood coagulation system, by mediating platelet aggregation. Mutations in this gene are associated with platelet-type bleeding disorders, which are characterized by a failure of platelet aggregation, including Glanzmann thrombasthenia.
Entrez Gene ID
3674
UniProt ID
P08514
Alternative Names
Integrin Subunit Alpha 2b
Function
Integrin alpha-IIb/beta-3 is a receptor for fibronectin, fibrinogen, plasminogen, prothrombin, thrombospondin and vitronectin. It recognizes the sequence R-G-D in a wide array of ligands. It recognizes the sequence H-H-L-G-G-G-A-K-Q-A-G-D-V in fibrinogen gamma chain. Following activation integrin alpha-IIb/beta-3 brings about platelet/platelet interaction through binding of soluble fibrinogen. This step leads to rapid platelet aggregation which physically plugs ruptured endothelial cell surface.
Biological Process
Cell-matrix adhesionIEA:Ensembl
Integrin-mediated signaling pathwayManual Assertion Based On ExperimentHDA:UniProtKB
Cellular Location
Membrane
Involvement in disease
Glanzmann thrombasthenia 1 (GT1):
A form of Glanzmann thrombasthenia, a disorder characterized by failure of platelet aggregation, absent or diminished clot retraction, and mucocutaneous bleeding of mild-to-moderate severity. Glanzmann thrombasthenia has been classified into clinical types I and II. In type I, platelets show absence of glycoprotein IIb-IIIa complexes at their surface and lack fibrinogen and clot retraction capability. In type II, the platelets express glycoprotein IIb-IIIa complexes at reduced levels, have detectable amounts of fibrinogen, and have low or moderate clot retraction capability. GT1 inheritance is autosomal recessive.
Bleeding disorder, platelet-type, 16 (BDPLT16):
An autosomal dominant form of congenital macrothrombocytopenia associated with platelet anisocytosis. It is a disorder of platelet production. Affected individuals may have no or only mildly increased bleeding tendency. In vitro studies show mild platelet functional abnormalities.
Topology
Extracellular: 32-993
Helical: 994-1019
Cytoplasmic: 1020-1039
More Infomation

Jiang, J., Li, W., Zhou, L., Liu, D., Wang, Y., An, J., ... & Xie, Z. (2023). Platelet ITGA2B inhibits caspase-8 and Rip3/Mlkl-dependent platelet death though PTPN6 during sepsis. Iscience, 26(8).

Zhao, J., Zhou, M., Wang, Z., Wu, L., Hu, Z., & Liang, D. (2022). Ectopic expression of FVIII in HPCs and MSCs derived from hiPSCs with site-specific integration of ITGA2B promoter-driven BDDF8 gene in hemophilia a. International Journal of Molecular Sciences, 23(2), 623.

Xie, Z., Jiang, J., Cao, L., Jiang, M., Yang, F., Ma, Z., ... & Zhou, L. (2021). Nonsense‐mediated mRNA decay efficiency influences bleeding severity in ITGA2B c. 2659C> T (p. Q887X) knock‐in mice. Clinical Genetics, 100(2), 213-218.

Ross, J. E., Zhang, B. M., Lee, K., Mohan, S., Branchford, B. R., Bray, P., ... & Di Paola, J. (2021). Specifications of the variant curation guidelines for ITGA2B/ITGB3: ClinGen platelet disorder variant curation panel. Blood Advances, 5(2), 414-431.

Karaman, K., Yürektürk, E., Geylan, H., Yaşar, A. Ş., Karaman, S., Aymelek, H. S., ... & Oner, A. F. (2021). Identification of three novel pathogenic ITGA2B and one novel pathogenic ITGB3 mutations in patients with hereditary Glanzmann’s thrombasthenia living in Eastern Turkey. Platelets, 32(2), 238-242.

Negahdari, S., Zamani, M., Seifi, T., Sedighzadeh, S., Mazaheri, N., Zeighami, J., ... & Galehdari, H. (2020). Identification of three novel mutations in the FANCA, FANCC, and ITGA2B genes by whole exome sequencing. International journal of preventive medicine, 11.

Li, R. H., Ontiveros, E., Nguyen, N., Stern, J. A., Lee, E., Hardy, B. T., & 99 Lives Cat Genome Consortium. (2020). Precision medicine identifies a pathogenic variant of the ITGA2B gene responsible for Glanzmann's thrombasthenia in a cat. Journal of veterinary internal medicine, 34(6), 2438-2446.

Xing, S., Zeng, T., Xue, N., He, Y., Lai, Y. Z., Li, H. L., ... & Liu, W. L. (2019). Development and validation of tumor-educated blood platelets integrin alpha 2b (ITGA2B) RNA for diagnosis and prognosis of non-small-cell lung cancer through RNA-seq. International journal of biological sciences, 15(9), 1977.

Khoriaty, R., Ozel, A. B., Ramdas, S., Ross, C., Desch, K., Shavit, J. A., ... & Ginsburg, D. (2019). Genome‐wide linkage analysis and whole‐exome sequencing identifies an ITGA 2B mutation in a family with thrombocytopenia. British journal of haematology, 186(4), 574-579.

Nurden, A. T., & Pillois, X. (2018). ITGA2B and ITGB3 gene mutations associated with Glanzmann thrombasthenia. Platelets, 29(1), 98-101.

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

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