EPO
Function
Hormone involved in the regulation of erythrocyte proliferation and differentiation and the maintenance of a physiological level of circulating erythrocyte mass (PubMed:28283061). Binds to EPOR leading to EPOR dimerization and JAK2 activation thereby activating specific downstream effectors, including STAT1 and STAT3 (PubMed:9774108).
Involvement in disease
Microvascular complications of diabetes 2
MVCD2
Pathological conditions that develop in numerous tissues and organs as a consequence of diabetes mellitus. They include diabetic retinopathy, diabetic nephropathy leading to end-stage renal disease, and diabetic neuropathy. Diabetic retinopathy remains the major cause of new-onset blindness among diabetic adults. It is characterized by vascular permeability and increased tissue ischemia and angiogenesis.
None
Disease susceptibility is associated with variants affecting the gene represented in this entry.
Erythrocytosis, familial, 5
ECYT5
An autosomal dominant disorder characterized by elevated serum hemoglobin and hematocrit. Some patients have increased serum erythropoietin levels.
None
The disease is caused by variants affecting the gene represented in this entry.
Diamond-Blackfan anemia-like
DBAL
An autosomal recessive hematologic disease characterized by severe red cell hypoplastic anemia, selective absence of red cell precursors and progenitors seen on bone marrow biopsy, and increased serum erythropoietin.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the EPO/TPO family.
Tissue Specificity
Produced by kidney or liver of adult mammals and by liver of fetal or neonatal mammals.
Cellular localization
- Secreted
Alternative names
Erythropoietin, EPO