loading...| Preferred Name |
Folliculin |
|
| Synonyms |
BHD Skin Lesion Fibrofolliculoma Protein Birt-Hogg-Dube Syndrome Protein BHD FLCN Folliculin |
|
| Definitions |
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. |
|
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C63518 |
|
| code |
C63518 |
|
| Concept_In_Subset |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C142799 |
|
| Contributing_Source |
CTRP |
|
| DEFINITION |
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. |
|
| Display_Name |
Folliculin |
|
| FULL_SYN |
BHD Skin Lesion Fibrofolliculoma Protein Birt-Hogg-Dube Syndrome Protein BHD FLCN Folliculin |
|
| label |
Folliculin |
|
| Legacy Concept Name |
Folliculin_Protein |
|
| OMIM_Number |
607273 |
|
| Preferred_Name |
Folliculin |
|
| prefixIRI |
Thesaurus:C63518 |
|
| Semantic_Type |
Amino Acid, Peptide, or Protein |
|
| Swiss_Prot |
Q8NFG4 |
|
| UMLS_CUI |
C0700903 |
|
| subClassOf |