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FLASH GENE

Symbol

EPO

contributors: mct - updated : 27-04-2016

HGNC name	erythropoietin
HGNC id	3415

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

to proliferative diabetic retinopathy (PDR) and end stage renal disease (ESRD)

Variant & Polymorphism other	loss of function leading to reduced hippocampal neurogenesis
	polymorphisms increasing the risk of proliferative diabetic retinopathy (PDR) and end stage renal disease (ESRD)

Candidate gene	EPO is increased in the vitreous fluid from ischemic retinal diseases such as proliferative diabetic retinopathy
	EPO is expressed in the human retina, and it is upregulated in diabetic patients even without retinopathy
Marker
Therapy target
	System Type Disorder Pubmed cardiovascular aquired   EPO/EPOR is a novel therapeutic target in cardiovascular disease diabete     promotion of EPO signaling in beta cells may be a novel therapeutic strategy for diabetes prevention and treatment neurology neurodegenerative   EPO administration can be a new promising therapeutic approach in amyotrophic lateral sclerosis neurology neurodegenerative alzheimer may be useful for the treatment of AD

ANIMAL & CELL MODELS

deletion of the Epo gene in mice leads to embryonic lethality at days 13 to 15, coincident with the establishment of definitive (adult-type) erythropoiesis and underscoring the absolute necessity of Epo function