SFSWAP
Description
The SFSWAP (splicing factor SWAP) is a protein-coding gene located on chromosome 12.
The SFSWAP gene in humans encodes a protein homologous to the Drosophila splicing regulatory protein. This gene exhibits autoregulation, controlling its own expression by influencing the splicing of its first two introns. Additionally, it regulates the splicing of fibronectin and CD45 genes. Two distinct isoforms of the SFSWAP protein have been identified, encoded by different transcript variants.
SFSWAP is also known as SFRS8, SWAP.
Associated Diseases
- Miyoshi myopathy
- familial atrial fibrillation
- Brugada syndrome
- sinoatrial node dysfunction and deafness
- dilated cardiomyopathy 1L
- long QT syndrome 9
- familial sick sinus syndrome
