基因名：
ETHE1
产品别名：
HSCO； YF13H12； ETHE1； ETHE1 persulfide dioxygenase； ETHE1 persulfide dioxygenase； persulfide dioxygenase ETHE1, mitochondrial； ethylmalonic encephalopathy 1； hepatoma subtracted clone one protein； protein ETHE1, mitochondrial； sulfur dioxygenase ETHE1； 乙基丙二酸脑病蛋白；
背景信息：
Probably plays an important role in metabolic homeostasis in mitochondria. May function as a nuclear-cytoplasmic shuttling protein that binds transcription factor RELA/NFKB3 in the nucleus and exports it to the cytoplasm. Suppresses p53-induced apoptosis by preventing nuclear localization of RELA.
Involvement in disease:Defects in ETHE1 are a cause of ethylmalonic encephalopathy (EE) . EE is an autosomal recessive disorder characterized by neurodevelopmental delay and regression, recurrent petechiae, acrocyanosis, diarrhea, leading to death in the first decade of life. It is also associated with persistent lactic acidemia and ethylmalonic and methylsuccinic aciduria.
