EPO-Alpha/Fc Chimera Protein (Epofc) (EPO) Human Active Protein

This gene encodes a secreted, glycosylated cytokine composed of four alpha helical bundles. The encoded protein is mainly synthesized in the kidney, secreted into the blood plasma, and binds to the erythropoietin receptor to promote red blood cell production, or erythropoiesis, in the bone marrow. Expression of this gene is upregulated under hypoxic conditions, in turn leading to increased erythropoiesis and enhanced oxygen-carrying capacity of the blood. Expression of this gene has also been observed in brain and in the eye, and elevated expression levels have been observed in diabetic retinopathy and ocular hypertension. Recombinant forms of the encoded protein exhibit neuroprotective activity against a variety of potential brain injuries, as well as antiapoptotic functions in several tissue types, and have been used in the treatment of anemia and to enhance the efficacy of cancer therapies. [provided by RefSeq, Aug 2017]

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: 7q22.1

Cellular Component: cell surface; extracellular region; extracellular space

Molecular Function: erythropoietin receptor binding; protein binding

Biological Process: cell proliferation; erythrocyte differentiation; negative regulation of transcription from RNA polymerase II promoter; positive regulation of cell proliferation; positive regulation of DNA replication; positive regulation of Ras protein signal transduction; positive regulation of transcription, DNA-dependent; positive regulation of tyrosine phosphorylation of STAT protein

Disease: Microvascular Complications Of Diabetes, Susceptibility To, 2