Aliases for ETHE1 Gene
External Ids for ETHE1 Gene
This gene encodes a sulfur dioxygenase that localizes within the mitochondrial matrix. The enzyme functions in sulfide catabolism. Mutations in this gene result in ethylmalonic encephalopathy.[provided by RefSeq, May 2009]
GeneCards Summary for ETHE1 Gene
ETHE1 (Ethylmalonic Encephalopathy 1) is a Protein Coding gene. Diseases associated with ETHE1 include ethylmalonic encephalopathy. Among its related pathways are Metabolism and Metabolism of amino acids and derivatives. GO annotations related to this gene include iron ion binding and sulfur dioxygenase activity. An important paralog of this gene is HAGH.
UniProtKB/Swiss-Prot for ETHE1 Gene
Sulfur dioxygenase that plays an essential role in hydrogen sulfide catabolism in the mitochondrial matrix. Hydrogen sulfide (H(2)S) is first oxidized by SQRDL, giving rise to cysteine persulfide residues. ETHE1 consumes molecular oxygen to catalyze the oxidation of the persulfide, once it has been transferred to a thiophilic acceptor, such as glutathione (R-SSH). Plays an important role in metabolic homeostasis in mitochondria by metabolizing hydrogen sulfide and preventing the accumulation of supraphysiological H(2)S levels that have toxic effects, due to the inhibition of cytochrome c oxidase. First described as a protein that can shuttle between the nucleus and the cytoplasm and suppress p53-induced apoptosis by sequestering the transcription factor RELA/NFKB3 in the cytoplasm and preventing its accumulation in the nucleus (PubMed:12398897).