Erythropoietin, Chimax Fc Fusion Protein (EPO) Mouse Active Protein

This gene encodes the glycoprotein hormone erythropoietin that regulates the production of red blood cells and biosynthesis of hemoglobin. The predominant expression of this gene shifts from the liver during fetal development to kidney in adults. A complete lack of the encoded protein causes embryonic lethal anemia in mice. The conditional inactivation of this gene in adult mice results in a chronic, normocytic and normochromic anemia. Transgenic mice expressing the human ortholog of this gene exhibit polycythemia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]

EPO: Erythropoietin is the principal hormone involved in the regulation of erythrocyte differentiation and the maintenance of a physiological level of circulating erythrocyte mass. Genetic variation in EPO is associated with susceptbility to microvascular complications of diabetes type 2 (MVCD2). These are 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. Belongs to the EPO/TPO family.

Protein type: Secreted, signal peptide; Secreted

Cellular Component: extracellular space; cell surface; extracellular region

Molecular Function: erythropoietin receptor binding; hormone activity; protein kinase activator activity

Biological Process: hemoglobin biosynthetic process; heart morphogenesis; erythrocyte maturation; apoptosis; positive regulation of transcription, DNA-dependent; regulation of transcription from RNA polymerase II promoter; negative regulation of myeloid cell apoptosis; peptidyl-serine phosphorylation; positive regulation of tyrosine phosphorylation of Stat5 protein; positive regulation of protein kinase activity; positive regulation of cell proliferation; cardiac muscle morphogensis; response to hypoxia; erythrocyte differentiation; ventricular cardiac muscle morphogenesis; positive regulation of Ras protein signal transduction; angiogenesis; positive regulation of neuron differentiation; positive regulation of DNA replication; embryo implantation; negative regulation of apoptosis