Immunogen sequence: VGCEDDQSLS KYEFVVTSGS PVAADRVGPT ILNKIEAALT NQNLSVDVVD QCLVCLKEEW MNKVKVLFKF TKVDSRPKED TQKLLSILGA SEEDNVKLLK FWMTGLSKTY KSHLMSTVR
Highest antigen sequence identity to the following orthologs: Mouse - 97%, Rat - 97%.
FLCN is located within the Smith-Magenis syndrome region on chromosome 17. Mutations in FLCN are associated with Birt-Hogg-Dube syndrome, which is characterized by fibrofolliculomas, renal tumors, lung cysts, and pneumothorax. Alternative splicing of FLCN results in two transcript variants encoding different isoforms.
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Protein Aliases: BHD; BHD skin lesion fibrofolliculoma protein; Birt-Hogg-Dube syndrome protein; FLCL; Folliculin
Gene Aliases: BHD; FLCL; FLCN
UniProt ID: (Human) Q8NFG4
Entrez Gene ID: (Human) 201163