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MGP004684

Record overview

MGPD IDMGP004684
Gene ID23474
SpeciesHomo sapiens (Human)
Gene Nameethylmalonic encephalopathy 1
Gene Symbol ETHE1
SynonymsHSCO; YF13H12;
Alternate namespersulfide dioxygenase ETHE1, mitochondrial; ethylmalonic encephalopathy protein 1; hepatoma subtracted clone one protein; protein ETHE1, mitochondrial; sulfur dioxygenase ETHE1;
Chromosome19
Map Location19q13.31
EC Number1.13.11.18
SummaryThis 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]
OrthologsView orthologs and multiple alignments for ETHE1

Proteins

persulfide dioxygenase ETHE1, mitochondrial
Refseq ID:NP_055112
Protein GI:41327741
UniProt ID:O95571
mRNA ID:NM_014297
Length:254
RefSeq Status:
MAEAVLRVARRQLSQRGGSGAPILLRQMFEPVSCTFTYLLGDRESREAVLIDPVLETAPRDAQLIKELGLRLLYAVNTHCHADHITGSGLLRSLLPGCQS
VISRLSGAQADLHIEDGDSIRFGRFALETRASPGHTPGCVTFVLNDHSMAFTGDALLIRGCGRTDFQQGCAKTLYHSVHEKIFTLPGDCLIYPAHDYHGF
TVSTVEEERTLNPRLTLSCEEFVKIMGNLNLPKPQQIDFAVPANMRCGVQTPTA
 
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