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- Table of Contents
Facts about Folliculin.
May regulate phosphorylation of RPS6KB1. .
Human | |
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Gene Name: | FLCN |
Uniprot: | Q8NFG4 |
Entrez: | 201163 |
Belongs to: |
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folliculin family |
BHD skin lesion fibrofolliculoma protein; BHDFLCL; Birt-Hogg-Dube syndrome protein; DKFZp547A118; FLJ45004; FLJ99377; folliculin; MGC17998; MGC23445
Mass (kDA):
64.473 kDA
Human | |
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Location: | 17p11.2 |
Sequence: | 17; NC_000017.11 (17206946..17237188, complement) |
Expressed in most tissues tested, including skin, lung, kidney, heart, testis and stomach.
Cytoplasm. Nucleus. Mainly localized in the nucleus. Colocalizes with FNIP1 and FNIP2 in the cytoplasm.
PMID: 12204536 by Nickerson M.L., et al. Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg- Dube syndrome.
PMID: 12843323 by Kahnoski K., et al. Alterations of the Birt-Hogg-Dube gene (BHD) in sporadic colorectal tumours.