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Mouse Anti-ACTN1 Recombinant Antibody (V2-12510) (CBMAB-1000-CN)


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Summary

Host Animal
Mouse
Specificity
Human, Mouse
Clone
V2-12510
Antibody Isotype
IgG2a
Application
WB, IF, IHC, IHC-P

Basic Information

Immunogen
Recombinant protein expressed in E. coli corresponding to aa. 650-893 of human alpha-actinin.
Specificity
Human, Mouse
Antibody Isotype
IgG2a
Clonality
Monoclonal
Application Notes
The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.
ApplicationNote
IF(ICC)1:100
IHC1:50
IHC-P1:50
WB1:2,000

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
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
Actinin Alpha 1
Introduction
Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments. This gene encodes a nonmuscle, cytoskeletal, alpha actinin isoform and maps to the same site as the structurally similar erythroid beta spectrin gene. This is a bundling protein. F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures.
Entrez Gene ID
Human83
Mouse109711
UniProt ID
HumanP12814
MouseQ7TPR4
Alternative Names
Actinin Alpha 1; Alpha-Actinin Cytoskeletal Isoform; F-Actin Cross-Linking Protein; Non-Muscle Alpha-Actinin-1; Actinin 1 Smooth Muscle; Alpha-Actinin-1; BDPLT15;
Function
F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein.
Biological Process
Actin filament bundle assembly
Actin filament network formation
Actin filament organization
Focal adhesion assembly
Negative regulation of cellular component movement
Platelet degranulation
Platelet formation
Platelet morphogenesis
Regulation of apoptotic process
Cellular Location
Cytoskeleton; Cell membrane; Z line; Cell junction. Colocalizes with MYOZ2 and PPP3CA at the Z-line of heart and skeletal muscle. Colocalizes with PSD in membrane ruffles and central reticular structures.
Involvement in disease
Bleeding disorder, platelet-type 15 (BDPLT15): An autosomal dominant form of macrothrombocytopenia. Affected individuals usually have no or only mild bleeding tendency, such as epistaxis. Laboratory studies show decreased numbers of large platelets and anisocytosis, but the platelets show no in vitro functional abnormalities.
More Infomation

O'Sullivan, L. R., Ajaykumar, A. P., Dembicka, K. M., Murphy, A., Grennan, E. P., & Young, P. W. (2020). Investigation of calmodulin‐like and rod domain mutations suggests common molecular mechanism for α‐actinin‐1‐linked congenital macrothrombocytopenia. FEBS letters, 594(1), 161-174.

Xie, G. F., Zhao, L. D., Chen, Q., Tang, D. X., Chen, Q. Y., Lu, H. F., ... & Chen, Z. (2020). High ACTN1 is associated with poor prognosis, and ACTN1 silencing suppresses cell proliferation and metastasis in Oral squamous cell carcinoma. Drug Design, Development and Therapy, 14, 1717.

Cetinkaya, A., Berge, B., Sen-Hild, B., Troidl, K., Gajawada, P., Kubin, N., ... & Richter, M. (2020). Radixin relocalization and nonmuscle α-Actinin expression are features of remodeling cardiomyocytes in adult patients with dilated cardiomyopathy. Disease Markers, 2020.

Blondelle, J., Tallapaka, K., Seto, J. T., Ghassemian, M., Clark, M., Laitila, J. M., ... & Lange, S. (2019). Cullin-3–dependent deregulation of ACTN1 represents a pathogenic mechanism in nemaline myopathy. JCI insight, 4(10).

Eich, F., Nonis, D. F., Sen, N. E., Nowock, J., & Auburger, G. (2019). Ataxin-2 Binds Alpha-Actinin-1.

Yang, X., Pang, Y., Zhang, J., Shi, J., Zhang, X., Zhang, G., ... & Fu, L. (2019). High expression levels of ACTN1 and ACTN3 indicate unfavorable prognosis in acute myeloid leukemia. Journal of Cancer, 10(18), 4286.

Faleschini, M., Melazzini, F., Marconi, C., Giangregorio, T., Pippucci, T., Cigalini, E., ... & Noris, P. (2018). ACTN 1 mutations lead to a benign form of platelet macrocytosis not always associated with thrombocytopenia. British journal of haematology, 183(2), 276-288.

Kanhai, D., Mulder, R., Ploos van Amstel, H. K., Schutgens, R., Lukens, M., & Tamminga, R. Y. (2018). Familial macrothrombocytopenia due to a double mutation in cis in the alpha‐actinin 1 gene (ACTN1), previously considered to be chronic immune thrombocytopenic purpura. Pediatric blood & cancer, 65(12), e27418.

Milanini, J., Fayad, R., Partisani, M., Lecine, P., Borg, J. P., Franco, M., & Luton, F. (2018). EFA6 proteins regulate lumen formation through α-actinin 1. Journal of cell science, 131(3), jcs209361.

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

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