Terminology Service for NFDI4Health

Folliculin

Go to external page http://purl.obolibrary.org/obo/NCIT_C63518


Folliculin protein (579 aa, ~64 kDa) is encoded by the human FLCN gene. This protein is purported to play a role in tumor suppresion, but an exact function has yet to be identified. Mutations and truncations in the protein have been implicated in the pathogenesis of fibrofolliculoma formation, Birt-Hogg-Dube syndrome, and colorectal tumorigenesis. [ ]

Term info

Label

Folliculin

Synonyms
  • BHD
  • BHD Skin Lesion Fibrofolliculoma Protein
  • Birt-Hogg-Dube Syndrome Protein
  • FLCN
  • Folliculin
Subsets

NCIT_C116977, NCIT_C142800, NCIT_C142799

Display Name

Folliculin

Legacy Concept Name

Folliculin_Protein

OMIM Number

607273

Preferred Name

Folliculin

Semantic Type

Amino Acid, Peptide, or Protein

Swiss Prot

Q8NFG4

UMLS CUI

C0700903

code

C63518