FLI1 - Friend leukemia integration 1 transcription factor - human protein (Medical)
 
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Protein
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FLI1 »  Friend leukemia integration 1 transcription factor
 
Protein also known as:  Transcription factor ERGB.
Gene name:  FLI1
Family name: ETS
Entry whose protein(s) existence is based on evidence at protein level
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1 101 4
GENE REF ISO

Displayed isoform: Iso 1     

 
 

Medical

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Disease 
Ewing sarcoma (ES) [MIM:612219]: A highly malignant, metastatic, primitive small round cell tumor of bone and soft tissue that affects children and adolescents. It belongs to the Ewing sarcoma family of tumors, a group of morphologically heterogeneous neoplasms that share the same cytogenetic features. They are considered neural tumors derived from cells of the neural crest. Ewing sarcoma represents the less differentiated form of the tumors. The gene represented in this entry is involved in disease pathogenesis. A chromosomal aberration involving FLI1 is found in patients with Erwing sarcoma. Translocation t(11;22)(q24;q12) with EWSR1.  
  • CuratedUniProtKB
According to Orphanet, this protein is involved in the following diseases:
Ewing sarcoma  319  
Extraskeletal Ewing sarcoma  370334  
Isolated delta-storage pool disease  248340  
Paris-Trousseau thrombocytopenia  851  
Peripheral primitive neuroectodermal tumor  370348  
 

Keywords

Disease 
Proto-oncogene  definition   [KW-0656]
Technical term 
Reference proteome  definition   [KW-1185]
 

Further external links

Organism-specific databases
CTD: 2313
MIM: 612219
PharmGKB: PA28170
Polymorphism databases
DMDM: 399496
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.