Rabbit anti-Human ETHE1 Polyclonal Antibody

Uniprot Id

O95571

Target Species

Human

Target Name

ETHE1

Target Full Name

Persulfide dioxygenase ETHE1, mitochondrial

Target Function

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.

Target Involvement

Ethylmalonic encephalopathy (EE)

Target Subcellular Location

Cytoplasm. Nucleus. Mitochondrion matrix.

Target Protein Families

Metallo-beta-lactamase superfamily, Glyoxalase II family

Target Tissue Specificity

Ubiquitously expressed.

Target Research Area

Cell Biology

Target Synonyms

Ethe1; ETHE1 protein; mitochondrial precursor; ETHE1_HUMAN; ethylmalonic encephalopathy 1; Ethylmalonic encephalopathy protein 1; hepatoma subtracted clone one; Hepatoma subtracted clone one protein; HSCO; mitochondrial; Protein ETHE1; Protein ETHE1 mitochondrial; YF13H12

Target Background

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.