Aliases for ETHE1 Gene
External Ids for ETHE1 Gene
Previous GeneCards Identifiers for ETHE1 Gene
This gene encodes a member of the metallo beta-lactamase family of iron-containing proteins involved in the mitochondrial sulfide oxidation pathway. The encoded protein catalyzes the oxidation of a persulfide substrate to sulfite. Certain mutations in this gene cause ethylmalonic encephalopathy, an infantile metabolic disorder affecting the brain, gastrointestinal tract and peripheral vessels. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2016]
GeneCards Summary for ETHE1 Gene
ETHE1 (ETHE1 Persulfide Dioxygenase) is a Protein Coding gene. Diseases associated with ETHE1 include Encephalopathy, Ethylmalonic and Encephalopathy. Among its related pathways are Sulfur amino acid metabolism and Viral mRNA Translation. Gene Ontology (GO) annotations related to this gene include iron ion binding and sulfur dioxygenase activity. An important paralog of this gene is PNKD.
UniProtKB/Swiss-Prot Summary 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).