Definition
The complex process by which introns are removed and exons rejoined to form a mature mRNA transcript.
Use in clinical context
Genes contain both introns and exons. Only the exons contain the information required to code for a protein. The introns need to be removed before the mRNA can be translated into a polypeptide chain. The translated protein is likely to be nonsensical if the introns are not removed from the mRNA, and the protein will not function as it should. Variants in a gene can affect this process which can result in exons being skipped or missing in the mature mRNA. Alternatively, different versions of a protein can be made from the gene by altering how the mRNA is spliced.
Related terms
Exons | Gene | Introns | Messenger RNA | Polypeptide | Protein | Transcription | Translation
