TAR DNA-binding protein 43 (TARDBP)

DNA and RNA-binding protein that regulates transcription and splicing. Involved in the regulation of CFTR splicing.

It promotes CFTR exon 9 skipping by binding to the UG repeated motifs in the polymorphic region near the 3'-splice site of the exon. The resulting aberrant splicing is associated with pathological features typical of cystic fibrosis.