The mutations found are in the protein TDP-43 [1]. This protein is also involved in ALS. It appears to be a regulatory DNA-binding protein. The protein also h

The mutations found are in the protein TDP-43 [1]. This protein is also involved in ALS. It appears to be a regulatory DNA-binding protein. The protein also helps splice the mRNA of CFTR - the cystic fibrosis transmembrane conductance regulator. [1] http://www.uniprot.org/uniprot/Q13148 http://www.uniprot.org/uniprot/Q13148