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A form of splicing that produces different mature mRNA transcripts from the same gene.

Use in clinical context

Splicing removes the introns from mRNA before it is translated into a polypeptide chain – the basis of proteins. Splicing can also remove exons from mRNA, which results in different mature mRNA transcripts and therefore different proteins. This allows the genome to produce many more proteins than there are genes.

Alternative splicing is an important normal process used by cells, often when the same gene is expressed in different tissues. Sometimes, however, mRNA is alternatively spliced when it should not be, and this may result in important functional changes. Many cancers show aberrant splicing and genomic variants can also affect splicing in rare diseases, causing or contributing to their cause.

Last updated on 13th December, 2021