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  Domain Name: EpoR_lig-bind
Erythropoietin receptor, ligand binding. Members of this family interact with erythropoietin (EPO), with subsequent initiation of the downstream chain of events associated with binding of EPO to the receptor, including EPO-induced erythroblast proliferation and differentiation through induction of the JAK2/STAT5 signaling cascade. The domain adopts a secondary structure composed of a short amino-terminal helix, followed by two beta-sandwich regions.

Total Mutations Found: 78
Total Disease Mutations Found: 20
This domain occurred 6 times on human genes (28 proteins).



  AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL
  LARON SYNDROME
  LARON SYNDROME WITH UNDETECTABLE SERUM GH-BINDING PROTEIN
  SHORT STATURE, IDIOPATHIC, AUTOSOMAL
  THROMBOCYTHEMIA 2, SUSCEPTIBILITY TO


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Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


No Conserved Features/Sites Found for EpoR_lig-bind







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Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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