What is the full functional impact of alternative splicing in human development and disease?

Question: What is the full functional impact of alternative splicing in human development and disease?
- Keywords:
  diseases
Asked by them20fen to Sally, Mmboyi, Mike, Michael, Jacinta, Gliday, Elkana, Edna, Arnold on 17 Jul 2025.
- Michael Kimwele answered on 17 Jul 2025:
  
  Alternative splicing (AS) significantly impacts human development and disease by increasing protein diversity and regulating gene expression. It allows a single gene to produce multiple protein isoforms, each with potentially different functions, contributing to cell differentiation, tissue identity, and organ development. Disruptions in AS can lead to a wide range of diseases, including neurological disorders, cancer, and cardiovascular diseases.

Question: What is the full functional impact of alternative splicing in human development and disease?