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Mouse Anti-EFTUD2 Recombinant Antibody (CBFYE-0510) (CBMAB-E0867-FY)

This product is mouse antibody that recognizes EFTUD2. The antibody CBFYE-0510 can be used for immunoassay techniques such as: WB, IHC-P, IF, FC.
See all EFTUD2 antibodies

Summary

Host Animal
Mouse
Specificity
Human, Mouse, Rat
Clone
CBFYE-0510
Antibody Isotype
IgG1
Application
WB, IHC-P, IF, FC

Basic Information

Specificity
Human, Mouse, Rat
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
TBS, pH7.4, 1% BSA, 40% glycerol
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
Elongation Factor Tu Gtp Binding Domain Containing 2
Introduction
This gene encodes a GTPase which is a component of the spliceosome complex which processes precursor mRNAs to produce mature mRNAs. Mutations in this gene are associated with mandibulofacial dysostosis with microcephaly. Multiple transcript variants encoding different isoforms have been found for this gene.
Entrez Gene ID
Human9343
Mouse20624
Rat287739
UniProt ID
HumanQ15029
MouseO08810
RatF1LM66
Alternative Names
Elongation Factor Tu GTP Binding Domain Containing 2; Elongation Factor Tu GTP-Binding Domain-Containing Protein 2; U5 SnRNP-Specific Protein, 116 KDa; SNU114 Homolog; Snrp116; HSNU114; 116 KDa U5 Small Nuclear Ribonucleoprotein Component; U5 SnRNP Specific Protein, 116 KD
Research Area
Required for pre-mRNA splicing as component of the spliceosome, including pre-catalytic, catalytic and post-catalytic spliceosomal complexes (PubMed:28502770, PubMed:28781166, PubMed:28076346, PubMed:29361316, PubMed:30315277, PubMed:29360106, PubMed:29301961, PubMed:30705154).

Component of the U5 snRNP and the U4/U6-U5 tri-snRNP complex, a building block of the spliceosome (PubMed:16723661).
Biological Process
Cellular response to drug Source: Ensembl
mRNA splicing, via spliceosome Source: UniProtKB
Response to cocaine Source: Ensembl
Cellular Location
Nucleus
Involvement in disease
Mandibulofacial dysostosis with microcephaly (MFDM):
A rare syndrome characterized by progressive microcephaly, midface and malar hypoplasia, micrognathia, microtia, dysplastic ears, preauricular skin tags, significant developmental delay, and speech delay. Many patients have major sequelae, including choanal atresia that results in respiratory difficulties, conductive hearing loss, and cleft palate.

Beyer, S., Müller, L., Mitter, S., Keilmann, L., Meister, S., Buschmann, C., ... & Kolben, T. (2022). High RIG-I and EFTUD2 expression predicts poor survival in endometrial cancer. Journal of Cancer Research and Clinical Oncology, 1-11.

Kohailan, M., Al-Saei, O., Padmajeya, S., Aamer, W., Elbashir, N., Akil, A. A. S., ... & Fakhro, K. (2022). A de novo start-loss in EFTUD2 associated with mandibulofacial dysostosis with microcephaly: case report. Molecular Case Studies, 8(4), a006206.

Park, B. Y., Tachi-Duprat, M., Ihewulezi, C., Devotta, A., & Saint-Jeannet, J. P. (2022). The Core Splicing Factors EFTUD2, SNRPB and TXNL4A Are Essential for Neural Crest and Craniofacial Development. Journal of Developmental Biology, 10(3), 29.

Beauchamp, M. C., Djedid, A., Bareke, E., Merkuri, F., Aber, R., Tam, A. S., ... & Jerome-Majewska, L. A. (2021). Mutation in Eftud2 causes craniofacial defects in mice via mis-splicing of Mdm2 and increased P53. Human molecular genetics, 30(9), 739-757.

Narumi-Kishimoto, Y., Ozawa, H., Yanagi, K., Kawai, T., Okamura, K., Hata, K., ... & Matsubara, Y. (2020). A novel EFTUD2 mutation identified an adult male with mandibulofacial dysostosis Guion-Almeida type. Clinical Dysmorphology, 29(4), 186-188.

Tu, M., He, L., You, Y., Li, J., Yao, N., Qu, C., ... & Hong, J. (2020). EFTUD2 maintains the survival of tumor cells and promotes hepatocellular carcinoma progression via the activation of STAT3. Cell death & disease, 11(10), 1-12.

Thomas, H. B., Wood, K. A., Buczek, W. A., Gordon, C. T., Pingault, V., Attié‐Bitach, T., ... & O'Keefe, R. T. (2020). EFTUD2 missense variants disrupt protein function and splicing in mandibulofacial dysostosis Guion‐Almeida type. Human Mutation, 41(8), 1372-1382.

Lv, Z., Wang, Z., Luo, L., Chen, Y., Han, G., Wang, R., ... & Chen, G. (2019). Spliceosome protein Eftud2 promotes colitis-associated tumorigenesis by modulating inflammatory response of macrophage. Mucosal immunology, 12(5), 1164-1173.

Beauchamp, M. C., Djedid, A., Daupin, K., Clokie, K., Kumar, S., Majewski, J., & Jerome-Majewska, L. A. (2019). Loss of function mutation of Eftud2, the gene responsible for mandibulofacial dysostosis with microcephaly (MFDM), leads to pre-implantation arrest in mouse. PloS one, 14(7), e0219280.

Lacour, J. C., McBride, L., St. Hilaire, H., Mundinger, G. S., Moses, M., Koon, J., ... & Lacassie, Y. (2019). Novel de novo EFTUD2 mutations in 2 cases with MFDM, initially suspected to have alternative craniofacial diagnoses. The Cleft Palate-Craniofacial Journal, 56(5), 674-678.

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

Custom Antibody Labeling

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