ETHE1 [SEP] chromosome
ETHE1
Protein ETHE1, mitochondrial, also known as "ethylmalonic encephalopathy 1 protein" and "per sulfide dioxygenase", is a protein that in humans is encoded by the "ETHE1" gene located on chromosome 19.
Structure.
The human ETHE1 gene consists of 7 exons and encodes for a protein that is approximately 27 kDa in size.
Function.
This gene encodes a protein that is expressed in the thyroid.
The ETHE1 protein is thought to localize primarily to the mitochondrial matrix and functions as a
sulfur dioxygenase. Sulfur deoxygenates are proteins that function in sulfur metabolism. The ETHE1 protein is thought to catalyze the following reaction:
and requires iron and possibly glutathione as cofactors. The physiological substrate of ETHE1 is thought to be glutathione persulfide, an intermediate metabolite involved in hydrogen sulfide degradation.
Clinical significance.
Mutations in ETHE1 gene are thought to cause ethylmalonic encephalopathy, a rare inborn error of metabolism. Patients carrying ETHE1 mutations have been found to exhibit lower activity of ETHE1 and affinity for the ETHE1 substrate. Mouse models