| Gene Symbol |
FLCN
|
| Entrez Gene |
201163
|
| Alt Symbol |
BHD, FLCL
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
folliculin
|
| Other Description |
BHD skin lesion fibrofolliculoma protein|birt-Hogg-Dube syndrome protein
|
| Swissprots |
Q96BE4 Q8NFG4 Q6ZRX1 Q96BD2 A6NJJ8
|
| Accessions |
CAM35387 EAW55715 EAW55716 Q8NFG4 AF517523 AAM94803 AK126951 BAC86760 AK127912 BAC87186 AK309336 AL831885 CAD38565 BC015687 AAH15687 BC015725 AAH15725 BQ423946 CX759825 DA461022 DA944035 HQ447198 ADQ31685 XM_011523714 XP_011522016 XM_011523715 XP_011522017 XM_011523716 XP_011522018 XM_011523717 XP_011522019 XM_011523718 XP_011522020 XM_011523719 XP_011522021 XM_011523720 XP_011522022 XM_011523721 XP_011522023 XR_934007 NM_144606 NP_653207 NM_144997 NP_659434
|
| Function |
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). May be a tumor suppressor. May be involved in colorectal tumorigenesis. May be involved in energy and/or nutrient sensing through the AMPK and mTOR signaling pathways. May regulate phosphorylation of RPS6KB1. {ECO:0000269|PubMed:12204536, ECO:0000269|PubMed:17028174, ECO:0000269|PubMed:18663353}.
|
| Subcellular Location |
Cytoplasm. Nucleus. Note=Mainly localized in the nucleus. Colocalizes with FNIP1 and FNIP2 in the cytoplasm.
|
| Tissue Specificity |
Expressed in most tissues tested, including skin, lung, kidney, heart, testis and stomach. {ECO:0000269|PubMed:12204536}.
|
| Top Pathways |
Renal cell carcinoma
|
![Western Blot: Folliculin Overexpression Lysate (Adult Normal) [NBL1-10747] Left-Empty vector transfected control cell lysate (HEK293 cell lysate); Right -Over-expression Lysate for Folliculin.](http://www.bioprodhub.com/system/product_images/cel_products/5/sub_2/9602_Folliculin%2520Overexpression%2520Lysate%2520(Adult%2520Normal)-Western%2520Blot-NBL1-10747-img0002.jpg)