RBM8A

RBM8A

RBM8A, also known as RNA Binding Motif Protein 8A, is a protein encoded by the RBM8A gene in humans. This protein is a crucial component of the exon junction complex (EJC), which is involved in various aspects of RNA metabolism, including splicing, export, translation, and nonsense-mediated mRNA decay (NMD).

Structure

RBM8A is characterized by the presence of an RNA recognition motif (RRM), which is a common feature of proteins that bind RNA. The RRM allows RBM8A to interact with RNA molecules and other components of the EJC. The protein is highly conserved across species, indicating its essential role in cellular processes.

Function

RBM8A plays a pivotal role in the post-transcriptional regulation of gene expression. It is a core component of the exon junction complex, which assembles on mRNA after splicing. The EJC marks the position of exon-exon junctions and is involved in:

• Nonsense-mediated mRNA decay (NMD): RBM8A, as part of the EJC, helps identify and degrade mRNAs that contain premature stop codons, preventing the production of truncated and potentially harmful proteins.
• mRNA export: The EJC, with RBM8A, facilitates the export of spliced mRNA from the nucleus to the cytoplasm.
• Translation regulation: RBM8A influences the translation of mRNA by interacting with the translation machinery.

Clinical Significance

Mutations or dysregulation of RBM8A have been implicated in various human diseases. Notably, RBM8A is associated with:

• Thrombocytopenia with absent radii (TAR) syndrome: A rare genetic disorder characterized by low platelet counts and skeletal abnormalities. Mutations in RBM8A, often involving compound heterozygosity with a null allele and a regulatory region variant, are a known cause of TAR syndrome.
• Cancer: Altered expression of RBM8A has been observed in certain cancers, suggesting a role in tumorigenesis.

Research and Studies

Ongoing research aims to further elucidate the role of RBM8A in RNA metabolism and its broader implications in health and disease. Studies are exploring its potential as a therapeutic target, particularly in conditions like TAR syndrome and cancer.

Also see

• Exon junction complex
• Nonsense-mediated mRNA decay
• RNA recognition motif
• Thrombocytopenia with absent radii syndrome

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