Bioss Inc.'s ETHE1 Polyclonal Antibody, Cy5 Conjugated is a Rabbit Polyclonal antibody. This antibody has been shown to work in applications such as: Immunocytochemistry, Immunofluorescence, Immunohistochemistry, Immunohistochemistry - fixed, and Immunohistochemistry - frozen. The ETHE1 Polyclonal Antibody, Cy5 Conjugated was generated using ETHE1, and ETHE1 persulfide dioxygenase as the antigen and it reacts with Human.
Description
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