EPO Human Active Protein

This gene is a member of the EPO/TPO family and encodes a secreted, glycosylated cytokine composed of four alpha helical bundles. The protein is found in the plasma and regulates red cell production by promoting erythroid differentiation and initiating hemoglobin synthesis. This protein also has neuroprotective activity against a variety of potential brain injuries and antiapoptotic functions in several tissue types. [provided by RefSeq, Jul 2008]

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; Secreted, signal peptide

Chromosomal Location of Human Ortholog: 7q22

Cellular Component: extracellular space; cell surface; extracellular region

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

Biological Process: hemoglobin biosynthetic process; erythrocyte maturation; apoptosis; blood circulation; positive regulation of transcription, DNA-dependent; response to lipopolysaccharide; response to testosterone stimulus; signal transduction; response to salt stress; response to vitamin A; peptidyl-serine phosphorylation; response to hyperoxia; positive regulation of tyrosine phosphorylation of Stat5 protein; response to estrogen stimulus; positive regulation of protein kinase activity; positive regulation of cell proliferation; response to axon injury; positive regulation of Ras protein signal transduction; positive regulation of neuron differentiation; response to electrical stimulus; positive regulation of DNA replication; embryo implantation; aging

Disease: Microvascular Complications Of Diabetes, Susceptibility To, 2