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Aliases | ETHE1, HSCO, YF13H12, persulfide dioxygenase, ETHE1 persulfide dioxygenase | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 608451; MGI: 1913321; HomoloGene: 8622; GeneCards: ETHE1; OMA: ETHE1 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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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. [5]
The human ETHE1 gene consists of 7 exons and encodes for a protein that is approximately 27 kDa in size.
This gene encodes a protein that is expressed mainly in the gastrointestinal tract, but also in several other tissues such as the liver and the thyroid. [5]
The ETHE1 protein is thought to localize primarily to the mitochondrial matrix [6] [7] 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 [8] and possibly glutathione [8] as cofactors. The physiological substrate of ETHE1 is thought to be glutathione persulfide, [8] an intermediate metabolite involved in hydrogen sulfide degradation.
Mutations in ETHE1 gene are thought to cause ethylmalonic encephalopathy, [7] [9] 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. [8] Mouse models of Ethe1 genetic ablation likewise exhibited reduced sulfide dioxygenase catabolism and cranial features of ethylmalonic encephalopathy. [6] Decrease in sulfide dioxygenase activity results in abnormal catabolism of hydrogen sulfide, a gas-phase signaling molecule in the central nervous system, [8] whose accumulation is thought to inhibit cytochrome c oxidase activity in the respiratory chain of the mitochondrion. [6] However, other metabolic pathways may also be involved that could exert a modulatory effect on hydrogen sulfide toxicity. [10]
ETHE1 has been shown to interact with RELA. [11]
ETHE1 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
Aliases | ETHE1, HSCO, YF13H12, persulfide dioxygenase, ETHE1 persulfide dioxygenase | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 608451; MGI: 1913321; HomoloGene: 8622; GeneCards: ETHE1; OMA: ETHE1 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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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. [5]
The human ETHE1 gene consists of 7 exons and encodes for a protein that is approximately 27 kDa in size.
This gene encodes a protein that is expressed mainly in the gastrointestinal tract, but also in several other tissues such as the liver and the thyroid. [5]
The ETHE1 protein is thought to localize primarily to the mitochondrial matrix [6] [7] 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 [8] and possibly glutathione [8] as cofactors. The physiological substrate of ETHE1 is thought to be glutathione persulfide, [8] an intermediate metabolite involved in hydrogen sulfide degradation.
Mutations in ETHE1 gene are thought to cause ethylmalonic encephalopathy, [7] [9] 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. [8] Mouse models of Ethe1 genetic ablation likewise exhibited reduced sulfide dioxygenase catabolism and cranial features of ethylmalonic encephalopathy. [6] Decrease in sulfide dioxygenase activity results in abnormal catabolism of hydrogen sulfide, a gas-phase signaling molecule in the central nervous system, [8] whose accumulation is thought to inhibit cytochrome c oxidase activity in the respiratory chain of the mitochondrion. [6] However, other metabolic pathways may also be involved that could exert a modulatory effect on hydrogen sulfide toxicity. [10]
ETHE1 has been shown to interact with RELA. [11]