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ETHE1

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.
Protein class

Disease related genes, Enzymes, Human disease related genes, Potential drug targets

Predicted location

Intracellular

Single cell type specificity

Cell type enhanced (Distal enterocytes, Paneth cells, Undifferentiated cells, Proximal enterocytes)

Immune cell specificity

Low immune cell specificity

Cell line specificity

Cell line enhanced (BJ hTERT+, OE19)

Interaction

Homodimer (PubMed:25596185). Monomer (PubMed:23144459). Interacts with TST (PubMed:19136963). May interact with RELA (PubMed:12398897).

Molecular function

Dioxygenase, Oxidoreductase

More Types Infomation

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For Research Use Only. Not For Clinical Use.

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