EPAS1 - Endothelial PAS domain-containing protein 1 - human protein (Medical)
 
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EPAS1 »  Endothelial PAS domain-containing protein 1
 
Gene name:  EPAS1
Entry whose protein(s) existence is based on evidence at protein level
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GENE REF ISO

Displayed isoform: Iso 1

 
 

Medical

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Disease 
Erythrocytosis, familial, 4 (ECYT4) [MIM:611783]: An autosomal dominant disorder characterized by increased serum red blood cell mass, elevated serum hemoglobin and hematocrit, and normal platelet and leukocyte counts. The disease is caused by mutations affecting the gene represented in this entry.  
4
  • CuratedUniProtKB
According to Orphanet, this protein is involved in the following diseases:
Autosomal dominant secondary polycythemia  247511  
Multiple paragangliomas associated with polycythemia  324299  
Sporadic pheochromocytoma  276624  
Sporadic secreting paraganglioma  276627  
 

Keywords

Disease 
Congenital erythrocytosis  definition   [KW-0985]
Disease mutation  definition   [KW-0225]
Technical term 
Reference proteome  definition   [KW-1185]
 

Further external links

Organism-specific databases
CTD: 2034
MIM: 611783
PharmGKB: PA27809
Polymorphism databases
DMDM: 32470617
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.