RBM8A is preferentially associated with mRNAs produced by splicing, including both nuclear mRNAs and newly exported cytoplasmic mRNAs . It is thought to remain associated with spliced mRNAs as a tag to indicate where introns had been present, thus coupling pre- and post-mRNA splicing events . This tagging mechanism is crucial for the proper processing and transport of mRNA within the cell.
RBM8A is involved in several important biological processes, including:
Mutations in the RBM8A gene are associated with several genetic disorders. One notable condition is Thrombocytopenia-Absent Radius (TAR) Syndrome, which is characterized by the absence of the radius bone in the forearm and a low platelet count . This syndrome is caused by an allele mutation and a low-frequency noncoding single-nucleotide polymorphism (SNP) in the RBM8A gene .
The recombinant form of RBM8A is used in various research applications to study its function and role in RNA metabolism. Understanding the mechanisms by which RBM8A operates can provide insights into the regulation of gene expression and the development of genetic disorders.