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EPO erythropoietin

Gene ID: 2056, updated on 17-Nov-2018
Also known as: EP; DBAL; ECYT5; MVCD2

Summary

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]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
DIAMOND-BLACKFAN ANEMIA-LIKE
MedGen: CN873436OMIM: 617911GeneReviews: Not available
not available
ERYTHROCYTOSIS, FAMILIAL, 5
MedGen: CN873435OMIM: 617907GeneReviews: Not available
not available
Microvascular complications of diabetes 2
MedGen: C2675471OMIM: 612623GeneReviews: Not available
See labs

Genomic context

Location:
7q22.1
Sequence:
Chromosome: 7; NC_000007.14 (100720800..100723700)
Total number of exons:
5

Links

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