FIP1L1 - Pre-mRNA 3'-end-processing factor FIP1 - human protein (Medical)
 
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FIP1L1 »  Pre-mRNA 3'-end-processing factor FIP1
 
Protein also known as:  Rearranged in hypereosinophilia.
Gene name:  FIP1L1
Family name: FIP1
Entry whose protein(s) existence is based on evidence at protein level
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GENE REF ISO

Medical

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Disease 
A chromosomal aberration involving FIP1L1 is found in some cases of hypereosinophilic syndrome. Interstitial chromosomal deletion del(4)(q12q12) causes the fusion of FIP1L1 and PDGFRA (FIP1L1-PDGFRA).  
  • CuratedUniProtKB
According to Orphanet, this protein is involved in the following disease:
Idiopathic hypereosinophilic syndrome  3260  
 

Keywords

Technical term 
Reference proteome  definition   [KW-1185]
 

Further external links

Organism-specific databases
CTD: 81608
MIM: 607685 [ phenotype ]
PharmGKB: PA134875694
Polymorphism databases
DMDM: 74749365
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.