ETHE1

GENE INFORMATION

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Gene name

ETHE1 (HGNC Symbol)

Synonyms

HSCO, YF13H12

Description

Ethylmalonic encephalopathy 1 (HGNC Symbol)

Entrez gene 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.[provided by RefSeq, May 2009]

Chromosome

19

Cytoband

q13.31

Chromosome location (bp)

43506719 - 43527244

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000105755 (version 78.38)

Entrez gene

23474

UniProt

O95571 (UniProt - Evidence at protein level)

neXtProt

NX_O95571

Antibodypedia

ETHE1 antibodies
 

PROTEIN VIEW

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ETHE1-001
 
ETHE1-004
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

ETHE1-001 ENSP00000292147
ENST00000292147
O95571
Show all »
Show » Show » 254 27.9 No 0
ETHE1-004 ENSP00000469037
ENST00000600651
M0QXB5
Show all »
Show » Show » 260 28.4 No 0