RNA binding motif protein 48 (RBM48)

RNA binding motif protein 48 (RBM48) is a highly conserved RNA-binding protein found in eukaryotes that functions as a component of the minor (U12-dependent) spliceosome. It is required for the correct splicing of rare U12-type introns in pre-mRNA transcripts. RBM48 interacts with other splicing factors, such as ARMC7 and U2AF subunits, and helps facilitate the recognition and removal of U12-type introns, impacting the regulation of gene expression at the post-transcriptional level. In maize, loss of RBM48 causes severe developmental phenotypes, and studies in human cells indicate that it is also necessary for proper U12 intron splicing in humans, though its direct role in human disease remains uncharacterized. RBM48 is found in the nucleoplasm, as part of the spliceosomal complex, and is not currently known to be directly targeted by any approved or experimental drugs[1][2][3][5].

Other names

C7orf64HSPC304DKFZp564O0523UPF0712 protein C7orf64