Ethylmalonic Encephalopathy 1 (ETHE1) ELISA试剂盒

ETHE1 encodes a sulfur dioxygenase that localizes within the mitochondrial matrix.

list all ELISA KIts 基因 基因ID UniProt
大鼠 ETHE1 ETHE1 292710  
 ETHE1 ETHE1 23474 O95571
小鼠 ETHE1 ETHE1 66071 Q9DCM0
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Human Ethylmalonic Encephalopathy 1 (ETHE1) interaction partners

  1. observations indicate the severe impact of ETHE1 deficiency on cellular physiology and redox state

  2. 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.

  3. ETHE1 R163W/R163Q mutations are associated with Ethylmalonic encephalopathy.

  4. Case Report: metabolic disturbances in 15-month-old male presenting with typical ethylmalonic encephalopathy associated with a homozygous ETHE1 mutation.

  5. T152I mutation of ETHE1 results in a 3-fold lower activity.

  6. role of the ETHE1 gene product in mitochondrial homeostasis and energy metabolism

  7. 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.

  8. structural comparison of human ETHE1 and At1g53580 from Arabidopsis thaliana

  9. 14 patients with EE were investigated for mutations in the ETHE1 gene. Of the 14 patients, 5 were found to carry novel mutations.

  10. ETHE1 is a mitochondrial sulfur dioxygenase involved in catabolism of sulfide that accumulates to toxic levels in ethylmalonic encephalopathy.

Mouse (Murine) Ethylmalonic Encephalopathy 1 (ETHE1) interaction partners

  1. Ethe1 deficiency disrupts post translational amino acid modification and mitochondrial metabolic systems.

ETHE1 抗原简介

Antigen Summary

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.

Gene names and symbols associated with ETHE1

  • ETHE1, persulfide dioxygenase (Ethe1) 抗体
  • ethylmalonic encephalopathy 1 (ethe1) 抗体
  • ETHE1, persulfide dioxygenase (ETHE1) 抗体
  • ethylmalonic encephalopathy 1 (Ethe1) 抗体
  • 0610025L15Rik 抗体
  • Hsco 抗体
  • YF13H12 抗体
  • zgc:85680 抗体

Protein level used designations for ETHE1

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

GENE ID SPECIES
292710 Rattus norvegicus
405865 Danio rerio
426450 Gallus gallus
456093 Pan troglodytes
23474 Homo sapiens
66071 Mus musculus
509150 Bos taurus
612416 Canis lupus familiaris
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