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ETHE1 encodes a sulfur dioxygenase that localizes within the mitochondrial matrix. Additionally we are shipping ETHE1 Antibodies (76) and ETHE1 Kits (6) and many more products for this protein.
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observations indicate the severe impact of ETHE1 deficiency on cellular physiology and redox state
ETHE1 is a major enzyme regulating endogenous glutathione persulfide /GS-(S)n-H and that its activity is controlled by polysulfidation of the Cys247 residue.
ETHE1 R163W/R163Q mutations are associated with Ethylmalonic encephalopathy.
Case Report: metabolic disturbances in 15-month-old male presenting with typical ethylmalonic encephalopathy associated with a homozygous ETHE1 mutation.
T152I mutation of ETHE1 results in a 3-fold lower activity.
role of the ETHE1 gene product in mitochondrial homeostasis and energy metabolism
Mutations of ETHE1 were detected in all the typical ethylmalonic encephalopathy patients analysed, but no ETHE1 mutations were identified in patients presenting with early onset progressive encephalopathy with ethylmalonic aciduria.
structural comparison of human ETHE1 and At1g53580 from Arabidopsis thaliana
14 patients with EE were investigated for mutations in the ETHE1 gene. Of the 14 patients, 5 were found to carry novel mutations.
ETHE1 is a mitochondrial sulfur dioxygenase involved in catabolism of sulfide (show SQRDL Proteins) that accumulates to toxic levels in ethylmalonic encephalopathy.
Ethe1 deficiency disrupts post translational amino acid modification and mitochondrial metabolic systems.
This gene encodes a sulfur dioxygenase that localizes within the mitochondrial matrix. The enzyme functions in sulfide catabolism. Mutations in this gene result in ethylmalonic encephalopathy.
protein ETHE1, mitochondrial
, ethylmalonic encephalopathy 1
, ethylmalonic encephalopathy protein 1
, hepatoma subtracted clone one protein
, persulfide dioxygenase ETHE1, mitochondrial
, sulfur dioxygenase ETHE1
, ethylmalonic encephalopathy protein 1 homolog