RNA-binding motif protein 8A (RBM8A)

RNA-binding motif protein 8A (RBM8A) is a conserved RNA-binding protein predominantly found in the nucleus, functioning as a core component of the exon junction complex (EJC). RBM8A is crucial in post-transcriptional mRNA processing, including mRNA splicing, transport, surveillance (notably nonsense-mediated decay), and regulation of stability/mRNA degradation. It helps carry mRNA from the nucleus to the cytoplasm and associates with spliced mRNAs to mark exon junctions, thereby facilitating correct gene expression. Loss-of-function mutations or deletions in RBM8A lead to thrombocytopenia-absent radius syndrome (TAR), a rare congenital disorder, and abnormal RBM8A expression is linked to several cancers and neurodevelopmental conditions[1][4][7][9][13]. No drugs directly target RBM8A, and inhibition is not compatible with life, underscoring its essential cellular function.

Other names

RNA-binding protein 8ARBM8HSPC114MDS014BOV-1ZNRPBOV-1ABOV-1BBOV-1CY14Binder of OVCA1-1Binder of OVCA1Exon junction complex core component Y14C1DELq21.1DEL1q21.1RBM8BTARZRNP1