EHHADH

GENE INFORMATION

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Gene name

EHHADH (HGNC Symbol)

Synonyms

ECHD

Description

Enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase (HGNC Symbol)

Entrez gene summary

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]

Chromosome

3

Cytoband

q27.2

Chromosome location (bp)

185190624 - 185281990

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000113790 (version 78.38)

Entrez gene

1962

UniProt

Q08426 (UniProt - Evidence at protein level)

neXtProt

NX_Q08426

Antibodypedia

EHHADH antibodies
 

PROTEIN VIEW

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EHHADH-001
 
EHHADH-002
 
EHHADH-005
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

EHHADH-001 ENSP00000231887
ENST00000231887
Q08426
Show all »
Show » Show » 723 79.5 No 0
EHHADH-002 ENSP00000387746
ENST00000456310
Q08426
Show all »
Show » Show » 627 69.2 No 0
EHHADH-005 ENSP00000396798
ENST00000440662
C9JJE0
Show all »
Show » Show » 76 8.3 No 0