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Gene : ETHE1 Homo sapiens

Name  ? ETHE1 persulfide dioxygenase Cytological Location  19q13.31
Brief Description  ETHE1 persulfide dioxygenase
Description  This gene encodes a member of the metallo beta-lactamase family of iron-containing proteins involved in the mitochondrial sulfide oxidation pathway. The encoded protein catalyzes the oxidation of a persulfide substrate to sulfite. Certain mutations in this gene cause ethylmalonic encephalopathy, an infantile metabolic disorder affecting the brain, gastrointestinal tract and peripheral vessels. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2016]
  • synonyms:
  • YF13H12,
  • ethylmalonic encephalopathy 1,
  • HSCO,
  • OTTHUMG00000182697,
  • YF13H12,
  • HSCO,
  • NM_014297,
  • ETHE1,
  • uc002owp.3,
  • HGNC:23287
  • identifiers:
  • 23474,
  • ENSG00000105755,
  • ETHE1

Genome feature

Region: gene ? Length: 20483  
Location: 19:43506719-43527201 reverse strand Cyto location: 19q13.31


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Proteins

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SNPs

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Disease

1 Diseases

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Expression

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3753 SN Ps

5 Cross References

18 Data Sets

5 Homologues

0 Located Features

97 Rna Seq Results