Function
Plays a role in pre-mRNA splicing and 3'-end processing. By recruiting PRPF19 and the PRP19C/Prp19 complex/NTC/Nineteen complex to the RNA polymerase II C-terminal domain (CTD), and thereby pre-mRNA, may couple transcription to splicing. Induces cardiac troponin-T (TNNT2) pre-mRNA exon inclusion in muscle.
Biological Context
Subcellular Location: Nucleus
Disease Association: Developmental delay, dysmorphic facies, and brain anomalies (DEVDFB) : An autosomal dominant disorder characterized by global developmental delay with intellectual disability and speech delay, epilepsy, hypotonia, short stature, microcephaly, intermittent exotropia, and non-specific facial dysmorphism. Brain imaging shows a thin corpus callosum and/or delayed myelination. [The disease is caused by variants affecting the gene represented in this entry]
Product Specifications
Recombinant Human Splicing factor U2AF 65 kDa subunit (U2AF2), Biotinylated is a recombinant protein from Homo sapiens (Human), expressed in E.coli, covering amino acids 2-475aa, with N-terminal MBP-tagged and C-terminal 6xHis-Avi-tagged tag, molecular weight 101.2kDa, purity Greater than 85% as determined by SDS-PAGE.. Suitable for ELISA and Western Blot applications. Explore more Biotinylated proteins →
