help  | about  | cite  | software

Gene : EHHADH Homo sapiens

Name  ? enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase Cytological Location  3q27.2
Brief Description  enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase
Description  The protein encoded by this gene is a bifunctional enzyme and is one of the four enzymes of the peroxisomal beta-oxidation pathway. The N-terminal region of the encoded protein contains enoyl-CoA hydratase activity while the C-terminal region contains 3-hydroxyacyl-CoA dehydrogenase activity. Defects in this gene are a cause of peroxisomal disorders such as Zellweger syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
  • synonyms:
  • LBP,
  • ECHD,
  • L-PBE,
  • uc003fpf.3,
  • NM_001166415,
  • FRTS3,
  • LBFP,
  • HGNC:3247,
  • ECHD,
  • enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase,
  • L07077,
  • PBFE,
  • OTTHUMG00000156698
  • identifiers:
  • 1962,
  • ENSG00000113790,

Genome feature

Region: gene ? Length: 63426  
Location: 3:185190624-185254049 reverse strand Cyto location: 3q27.2

Uni Prot Comments Displayer

Protein Atlas Displayer

Gene Expression Atlas Tissues Displayer

Gene Expression Atlas Diseases Displayer

Publication Counts Displayer

Curated Proteins Displayer


Gene Ontology Displayer

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


J Browse Displayer

Gene Structure Displayer

Overlapping Features Displayer

Mouse Alleles Displayer

Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.


Gene --> Proteins.


Gene Report --> GWAS hit


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]


Homologue Displayer


Cytoscape Network Displayer

Gene --> Physical and Genetic Interactions


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

Gene Ontology

Gene --> GO terms.



3753 SN Ps

5 Cross References

20 Data Sets

5 Homologues

0 Located Features

97 Rna Seq Results