機能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.
関連疾患Defects in ETHE1 are a cause of ethylmalonic encephalopathy (EE) [MIM:602473]. 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.
配列類似性Belongs to the metallo-beta-lactamase superfamily. Glyoxalase II family.
細胞内局在Cytoplasm. Nucleus. Mitochondrion matrix. According to PubMed:12398897, it is cytoplasmic and nuclear. According to PubMed:14732903, it is found in the mitochondrial matrix.