ETHE1 polyclonal antibody

ETHE1 (ethylmalonic encephalopathy 1), also known as HSCO (hepatoma subtracted clone one protein), is a 254 amino acid protein belonging to the metallo-beta-lactamase superfamily and glyoxalase II family. Localizing to the cytoplasm, nucleus and mitochondrion matrix, ETHE1 is ubiquitously expressed and may function in sulfide catabolism. ETHE1 binds two zinc ions per subunit and interacts directly with RELA, preventing its localization to the nucleus thus leading to suppressed p53-induced apoptosis. The gene encoding ETHE1 maps to human chromosome 19q13.31. Mutations to this gene result in ethylmalonic encephalopathy, an infantile metabolic disorder characterized by high levels of ethylmalonic acid, neurodevelopmental delay and regression, recurrent petechiae, acrocyanosis, and death within the first decade of life.