EFTUD2 blocking peptide
EFTUD2 Antibody (Center) Blocking Peptide
NCBI and Uniprot Product Information
NCBI Description
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. [provided by RefSeq, Apr 2012]
Uniprot Description
EFTUD2: Component of the U5 snRNP complex required for pre-mRNA splicing. Binds GTP. Defects in EFTUD2 are the cause of 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. Belongs to the GTP-binding elongation factor family. EF-G/EF-2 subfamily. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: RNA splicing; Spliceosome; RNA-binding
Chromosomal Location of Human Ortholog: 17q21.31
Cellular Component: Cajal body; cytoplasm; membrane; nuclear speck; nucleoplasm; spliceosome
Molecular Function: protein binding
Biological Process: mRNA processing; nuclear mRNA splicing, via spliceosome; RNA splicing; translation
Disease: Mandibulofacial Dysostosis, Guion-almeida Type
Research Articles on EFTUD2
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Product Notes
The EFTUD2 eftud2 (Catalog #AAA9228125) is a Blocking Peptide and is intended for research purposes only. The product is available for immediate purchase. It is sometimes possible for the material contained within the vial of "EFTUD2, Blocking Peptide" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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