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Position: hg38 chr17:17,213,655-17,228,137 Size: 14,483 Coding Exon Count: 11Ĭomments and Description Text from UniProtKBĭESCRIPTION: RecName: Full=Folliculin AltName: Full=BHD skin lesion fibrofolliculoma protein AltName: Full=Birt-Hogg-Dube syndrome protein įUNCTION: May play a role in the pathogenesis of an uncommon form of kidney cancer through its association with an inherited disorder of the hair follicle (fibrofolliculomas). Alternative splicing of this gene results in two transcript variants encoding different isoforms. Mutations in this gene are associated with Birt-Hogg-Dube syndrome, which is characterized by fibrofolliculomas, renal tumors, lung cysts, and pneumothorax. RefSeq Summary (NM_144997): This gene is located within the Smith-Magenis syndrome region on chromosome 17. Human Gene FLCN (ENST00000285071.9) from GENCODE V41ĭescription: Homo sapiens folliculin (FLCN), transcript variant 1, mRNA. ![]() |
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