Sign in or Register   Sign in or Register
  |  

Rabbit Anti-NBEAL2 Recombinant Antibody (CBWJN-1181) (CBMAB-N1238-WJ)

This product is a Rabbit antibody that recognizes NBEAL2. The antibody CBWJN-1181 can be used for immunoassay techniques such as: WB.
See all NBEAL2 antibodies

Summary

Host Animal
Rabbit
Specificity
Human
Clone
CBWJN-1181
Antibody Isotype
IgG
Application
WB

Basic Information

Specificity
Human
Antibody Isotype
IgG
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!]

Concentration
1.09 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
neurobeachin-like 2
Introduction
The protein encoded by this gene contains a beige and Chediak-Higashi (BEACH) domain and multiple WD40 domains, and may play a role in megakaryocyte alpha-granule biogenesis. Mutations in this gene are a cause of gray platelet syndrome. [provided by RefSeq, Dec 2011]
Entrez Gene ID
23218
UniProt ID
Q6ZNJ1
Alternative Names
Neurobeachin Like 2; Neurobeachin-Like Protein 2; Neurobeachin-Like 2; KIAA0540; BDPLT4; GPS;
Function
Probably involved in thrombopoiesis. Plays a role in the development or secretion of alpha-granules, that contain several growth factors important for platelet biogenesis.
Biological Process
Platelet formation Source: UniProtKB
Protein localization Source: GO_Central
Cellular Location
Endoplasmic reticulum
Involvement in disease
Gray platelet syndrome (GPS):
A rare platelet disorder characterized by a selective deficiency in the number and contents of platelet alpha-granules. It is associated with mild to moderate bleeding tendency and moderate thrombocytopenia. The platelets are enlarged and have a gray appearance on light microscopy of Wright-stained peripheral blood smears due to decreased granules.

Wegner, P., Drube, J., Ziegler, L., Strotmann, B., Marquardt, R., Küchler, C., ... & Drube, S. (2024). The Neurobeachin‐like 2 protein (NBEAL2) controls the homeostatic level of the ribosomal protein RPS6 in mast cells. Immunology.

Delage, L., Carbone, F., Riller, Q., Zachayus, J. L., Kerbellec, E., Buzy, A., ... & Rieux-Laucat, F. (2023). NBEAL2 deficiency in humans leads to low CTLA-4 expression in activated conventional T cells. Nature Communications, 14(1), 3728.

Kat, M., van Moort, I., Bürgisser, P. E., Kuijpers, T. W., Hofman, M., Favier, M., ... & Bierings, R. (2022). Mutations in NBEAL2 do not impact Weibel-Palade body biogenesis and Von Willebrand factor secretion in Gray Platelet Syndrome Endothelial Colony Forming Cells. bioRxiv, 2022-06.

Tariq, H., Perez Botero, J., Higgins, R. A., & Medina, E. A. (2021). Gray Platelet Syndrome Presenting With Pancytopenia, Splenomegaly, and Bone Marrow Fibrosis: Case Report With a Novel NBEAL2 Mutation. American journal of clinical pathology, 156(2), 253-258.

Pluthero, F. G., & Kahr, W. H. (2021). Gray platelet syndrome: NBEAL2 mutations are associated with pathology beyond megakaryocyte and platelet function defects. Journal of Thrombosis and Haemostasis, 19(2), 318-322.

Wen, Y., Su, H., Wang, W., Ren, F., Jiang, H., Wang, J., ... & Chen, Y. (2021). Prognostic Significance of NBEAL2 in Liver hepatocellular carcinoma.

Lo, R. W., Li, L., Pluthero, F. G., Leung, R., Eto, K., & Kahr, W. H. (2020). The endoplasmic reticulum protein SEC22B interacts with NBEAL2 and is required for megakaryocyte α-granule biogenesis. Blood, The Journal of the American Society of Hematology, 136(6), 715-725.

Jia, S., He, Y., Lu, M., Liao, N., Lei, Y., Lauriane, N., ... & Wei, H. (2019). Identification of novel pathogenic F13A1 mutation and novel NBEAL2 gene missense mutation in a pedigree with hereditary congenital factor XIII deficiency. Gene, 702, 143-147.

Ask a question We look forward to hearing from you.
0 reviews or Q&As

Purchasing FAQs
Technical FAQs

Loading...
Have you used Rabbit Anti-NBEAL2 Recombinant Antibody (CBWJN-1181)?
Submit a review and get a Coupon or an Amazon gift card. 20% off Coupon $30 eGift Card
Submit a review
Loading...
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.).

Online Inquiry

Documents

Contact us

  • Tel: (USA)
  • (UK)
  • Fax:
  • Email:

Submit A Review

Go to
Compare