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Gene : ETFDH Homo sapiens

Name  ? electron transfer flavoprotein dehydrogenase Cytological Location  4q32.1
Brief Description  electron transfer flavoprotein dehydrogenase
Description  This gene encodes a component of the electron-transfer system in mitochondria and is essential for electron transfer from a number of mitochondrial flavin-containing dehydrogenases to the main respiratory chain. Mutations in this gene are associated with glutaric acidemia. Alternatively spliced transcript variants that encode distinct isoforms have been observed. [provided by RefSeq, Aug 2013]
  • synonyms:
  • MADD,
  • OTTHUMG00000161684,
  • NM_001281737,
  • S69232,
  • uc003iqb.5,
  • HGNC:3483,
  • ETFDH,
  • ETFQO,
  • ETFQO,
  • electron-transferring-flavoprotein dehydrogenase
  • identifiers:
  • 2110,
  • ENSG00000171503,

Genome feature

Region: gene ? Length: 37523  
Location: 4:158672101-158709623 Cyto location: 4q32.1

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.



3753 SN Ps

5 Cross References

19 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results