Synonyms:BHD, DENND8B, ENTREZ:201163, FLCL, FLCN, HGNC:27310, MIM:607273, NM_001353229, NM_001353230, NM_001353231, NM_144606, NM_144997, NP_001340158, NP_001340159, NP_001340160, NP_653207, NP_659434, XM_011523714, XM_011523718, XM_011523719, XM_011523721, XM_017024305, XM_017024308, XM_017024309, XM_024450635, XP_011522016, XP_011522020, XP_011522021, XP_011522023, XP_016879794, XP_016879797, XP_016879798, XP_024306403, XR_001752445, folliculin
Omim:OMIM:607273
Id:ENSG00000154803
Hgnc:HGNC:27310
Description:folliculin
This gene is located within the Smith-Magenis syndrome region on chromosome 17. Mutations in this gene are associated with Birt-Hogg-Dube syndrome, which is characterized by fibrofolliculomas, renal tumors, lung cysts, and pneumothorax. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]