IDENTIFICATION OF A FOLLICULIN-BINDING PROTEIN FNIP1

摘要

This disclosure provides a new nucleic acid molecule, FNIPl, and the protein encoded thereby, along with several specific alternate transcript FNIPl sequences and proteins (isoforms). The disclosure further provides methods for identifying mutant FNIPl proteins or nucleic acids in a subject, and using them to determine or predict a subject's BHD disease or hamartomatous syndrome state. Also disclosed are methods, including methods of screening for compounds for the treatment of BHD syndrome and other hamartomatous syndromes, such as tuberous sclerosis complex, Peutz- Jeghers syndrome, Proteus syndrome, Lhermitte-Duclos disease, or Bannayan-Riley-Ruvalcaba syndrome, and methods of treatment.