The EFTUD2 antibody targets the EFTUD2 protein, a critical component of the major spliceosome complex responsible for pre-mRNA splicing. EFTUD2 (Elongation Factor Tu GTP-Binding Domain Containing 2), also known as Snu114. plays a role in spliceosomal activation and catalytic steps, linking RNA splicing to cellular processes like gene expression regulation, cell cycle control, and DNA damage response. Mutations in the EFTUD2 gene are associated with Mandibulofacial Dysostosis with Microcephaly (MFDM), a rare developmental disorder characterized by craniofacial abnormalities and neurodevelopmental defects.
EFTUD2 antibodies are widely used in research to study spliceosome dynamics, protein localization, and expression levels in various tissues or disease models. They are essential tools for techniques such as Western blotting, immunofluorescence, and immunoprecipitation. These antibodies are often raised in hosts like rabbits or mice, with validation including knockout cell line controls to confirm specificity.
Research applications span cancer biology (investigating splicing dysregulation in tumors), neurodevelopmental disorders, and genetic syndromes linked to spliceosomal defects. EFTUD2 antibodies also contribute to understanding how splicing errors contribute to pathogenesis, offering insights into therapeutic strategies targeting spliceosome-related pathways.