MPL - Thrombopoietin receptor - human protein (Medical)
 
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MPL »  Thrombopoietin receptor  (TPO-R)
 
Protein also known as:  Myeloproliferative leukemia protein; CD antigen CD110.
Gene name:  MPL
Entry whose protein(s) existence is based on evidence at protein level
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1 140 2
GENE REF ISO

Displayed isoform: Iso 1     

 
 

Medical

 show evidences
Disease 
Congenital amegakaryocytic thrombocytopenia (CAMT) [MIM:604498]: Disease characterized by isolated thrombocytopenia and megakaryocytopenia with no physical anomalies. The disease is caused by mutations affecting the gene represented in this entry.  
  • CuratedUniProtKB
Thrombocythemia 2 (THCYT2) [MIM:601977]: A myeloproliferative disorder characterized by excessive platelet production, resulting in increased numbers of circulating platelets. It can be associated with spontaneous hemorrhages and thrombotic episodes. The disease is caused by mutations affecting the gene represented in this entry.  
  • CuratedUniProtKB
Myelofibrosis with myeloid metaplasia (MMM) [MIM:254450]: A chronic myeloproliferative disorder characterized by replacement of the bone marrow by fibrous tissue, extramedullary hematopoiesis, anemia, leukoerythroblastosis and hepatosplenomegaly. The disease is caused by mutations affecting the gene represented in this entry.  
  • CuratedUniProtKB
According to Orphanet, this protein is involved in the following diseases:
Congenital amegakaryocytic thrombocytopenia  3319  
Essential thrombocythemia  3318  
Familial thrombocytosis  71493  
Myelofibrosis with myeloid metaplasia  824  
Polycythemia vera  729  
 

Keywords

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

Further external links

Organism-specific databases
CTD: 4352
MIM: 604498
MIM: 254450
MIM: 601977
PharmGKB: PA30923
Polymorphism databases
DMDM: 730980
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.