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Protein Coding Gene : Ethe1 ethylmalonic encephalopathy 1

Primary Identifier  MGI:1913321 Organism  mouse, laboratory
Chromosome  7 NCBI Gene Number  66071
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0)

Predicted to enable identical protein binding activity; iron ion binding activity; and sulfur dioxygenase activity. Predicted to be involved in glutathione metabolic process and hydrogen sulfide metabolic process. Located in mitochondrion. Is expressed in gallbladder; genitourinary system; gut; nervous system; and vascular system. Used to study ethylmalonic encephalopathy. Human ortholog(s) of this gene implicated in ethylmalonic encephalopathy. Orthologous to human ETHE1 (ETHE1 persulfide dioxygenase).
PHENOTYPE: Mice homozygous for a null mutation display premature death with elevated levels of hydrogen sulfide and thiosulfates. [provided by MGI curators]
  • synonyms:
  • 0610025L15Rik,
  • ethylmalonic encephalopathy 1,
  • Ethe1,
  • RIKEN cDNA 0610025L15 gene

Features --> Cross References

Genome

Sequence Feature Displayer

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0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

0 Involved In Mutations

0 Strain

0 Transcripts

0 Transgenic Expressors

0 UTRs

Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

Features --> Overlapping features

Proteins

Gene --> Proteins

Function

Mouse features --> Functions (GO terms)

Homology

Genes --> Homologs

Interactions

5 Pathways

0 Targeted By

Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

Literature

Mouse features --> Publications

 

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0 Driver For