loading...| Preferred Name |
Folliculin |
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| Synonyms |
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| 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://purl.obolibrary.org/obo/NCIT_C63518 |
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| code |
C63518 |
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| Contributing_Source |
CTRP |
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| 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 |
|
| in_subset |
http://purl.obolibrary.org/obo/NCIT_C116977 |
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| label |
Folliculin |
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| Legacy Concept Name |
Folliculin_Protein |
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| OMIM_Number |
607273 |
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| Preferred_Name |
Folliculin |
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| prefixIRI |
NCIT:C63518 |
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| prefLabel |
Folliculin |
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| Semantic_Type |
Amino Acid, Peptide, or Protein |
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| Swiss_Prot |
Q8NFG4 |
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| UMLS_CUI |
C0700903 |
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| subClassOf |