NP_055112.2
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
persulfide dioxygenase ETHE1, mitochondrial
NCBI Official Synonym Full Names
ethylmalonic encephalopathy 1
NCBI Protein Information
persulfide dioxygenase ETHE1, mitochondrial
UniProt Protein Name
Persulfide dioxygenase ETHE1, mitochondrial
UniProt Synonym Protein Names
Ethylmalonic encephalopathy protein 1; Hepatoma subtracted clone one protein; Sulfur dioxygenase ETHE1
UniProt Synonym Gene Names
UniProt Entry Name
ETHE1_HUMAN
NCBI Summary for ETHE1
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.[provided by RefSeq, May 2009]
UniProt Comments for ETHE1
ETHE1: Probably plays an important role in metabolic homeostasis in mitochondria. May function as a nuclear-cytoplasmic shuttling protein that binds transcription factor RELA/NFKB3 in the nucleus and exports it to the cytoplasm. Suppresses p53- induced apoptosis by preventing nuclear localization of RELA. Defects in ETHE1 are a cause of ethylmalonic encephalopathy (EE). EE is an autosomal recessive disorder characterized by neurodevelopmental delay and regression, recurrent petechiae, acrocyanosis, diarrhea, leading to death in the first decade of life. It is also associated with persistent lactic acidemia and ethylmalonic and methylsuccinic aciduria. Belongs to the metallo-beta-lactamase superfamily. Glyoxalase II family.
Protein type: Mitochondrial; Hydrolase; EC 1.13.11.18
Chromosomal Location of Human Ortholog: 19q13.31
Cellular Component: nucleoplasm; mitochondrion; mitochondrial matrix; cytoplasm
Molecular Function: iron ion binding; sulfur dioxygenase activity
Biological Process: glutathione metabolic process; sulfur amino acid metabolic process; sulfur amino acid catabolic process
Disease: Encephalopathy, Ethylmalonic
Product References and Citations for anti-ETHE1 antibody
Tiranti,V., Nat. Med. 15 (2), 200-205 (2009) Mineri,R., J. Med. Genet. 45 (7), 473-478 (2008)
Research Articles on ETHE1
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Products associated with anti-ETHE1 antibody
Pathways associated with anti-ETHE1 antibody
Diseases associated with anti-ETHE1 antibody
Organs/Tissues associated with anti-ETHE1 antibody
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