Ontology highlight
ABSTRACT:
SUBMITTER: Schmidt LS
PROVIDER: S-EPMC5682220 | biostudies-literature | 2018 Jan
REPOSITORIES: biostudies-literature
Schmidt Laura S LS Linehan W Marston WM
Gene 20170929
Germline mutations in the novel tumor suppressor gene FLCN are responsible for the autosomal dominant inherited disorder Birt-Hogg-Dubé (BHD) syndrome that predisposes to fibrofolliculomas, lung cysts and spontaneous pneumothorax, and an increased risk for developing kidney tumors. Although the encoded protein, folliculin (FLCN), has no sequence homology to known functional domains, x-ray crystallographic studies have shown that the C-terminus of FLCN has structural similarity to DENN (different ...[more]