EPO

Function

Hormone involved in the regulation of erythrocyte proliferation and differentiation and the maintenance of a physiological level of circulating erythrocyte mass. Binds to EPOR leading to EPOR dimerization and JAK2 activation thereby activating specific downstream effectors, including STAT1 and STAT3.

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

Database links

• swissprot:P01588

Target type

Proteins

Molecular weight

21307Da