ETHE1
Sign in to saveAlso known as HSCO, YF13H12, ETHE1, persulfide dioxygenase, ETHE1 persulfide dioxygenase
Protein ETHE1, mitochondrial, also known as "ethylmalonic encephalopathy 1 protein" and "per sulfide dioxygenase", is a protein that in humans is encoded by the ETHE1 gene located on chromosome 19.
Gene data
ETHE1- Name
- ETHE1 persulfide dioxygenase
- Type
- protein-coding
- Aliases
- HSCO, YF13H12
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].
via MyGene.info
Gene · Ensembl
ETHE1 persulfide dioxygenase
- Symbol
- ETHE1
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 19:43,506,713-43,527,259
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
Show 5 more facts
- HomoloGene ID
- 8622
- exact match
- identifiers.org/ncbigene/23474
- genomic end
- 43527230
- genomic start
- 44010871
- cytogenetic location
- 19q13.31
via Wikidata · CC0
~2 min read
Article
6 sectionsContents
- Structure
- Function
- Clinical significance
- Interactions
- References
- Further reading
Protein ETHE1, mitochondrial, also known as "ethylmalonic encephalopathy 1 protein" and "per sulfide dioxygenase", is a protein that in humans is encoded by the ETHE1 gene located on chromosome 19.
== Structure ==