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Description for Protein ETHE1

ethylmalonic encephalopathy 1
7 total interacting proteins; 2 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 3/0)
(platelet: 2; secretome: 1)
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. (PubMed Links)
Domains and Motifs:
None Available
Gene Ontology:
Gene Ontology Annotations
KEGG - Enzyme ID(s):
None Available
KEGG - Orthology:
None Available
KEGG - Pathway(s):
None Available
Nomenclature / Alternative Names:
Hepatoma subtracted clone one; HSCO; YF13H12; D83198; Ethylmalonic encephalopathy 1
Approved Symbol:
ETHE1
(De-) Phosphorylations:
Total (de-) phosphorylation sites: 0
No human (de-) phosphorylation sites; No platelet phosphorylation sites
Phosphorylation Targets:
Total phosphorylation targets: 0
Human phosphorylation targets: 0;Predicted platelet targets: 0
Protein Characteristics:
Isoform-specific Information
Icon DrugsAssociated Drugs (DrugBank Accession):

None Available

Associated Genetic Diseases:

  • Ethylmalonic encephalopathy(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 09764 Entrez Gene ID: 23474 OMIM ID: 608451 Swissprot Accession: O95571;