The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
Protein concentration is above or equal to 0.05 mg/ml.
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Preparation and Storage
Stability and Storage
Shipped on dry ice. Upon delivery aliquot and store at -80ºC. Avoid freeze / thaw cycles.
pH: 8.00 Constituents: 0.31% Glutathione, 0.79% Tris HCl
116 kDa U5 small nuclear ribonucleoprotein component
Elongation factor Tu GTP binding domain containing 2
Elongation factor Tu GTP-binding domain-containing protein 2
U5 small nuclear ribonucleoprotein component
U5 snRNP specific protein, 116 kD
U5 snRNP specific protein, 116 kDa
U5 snRNP-specific protein
Component of the U5 snRNP complex required for pre-mRNA splicing. Binds GTP.
Involvement in disease
Defects in EFTUD2 are the cause of mandibulofacial dysostosis with microcephaly (MFDM) [MIM:610536]. 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.
Phosphorylated upon DNA damage, probably by ATM or ATR.