EHHADH

GENERAL INFORMATION

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Gene name

EHHADH

Gene description

Enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase

Protein class

Disease related genes
Enzymes
Plasma proteins
Potential drug targets
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

3
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Group enriched (kidney, liver)
GTEx:Group enriched (kidney, liver)

Protein evidence

Evidence at protein level

Protein localization

Cytoplasmic granular expression in hepatocytes and renal proximal tubules.

ANTIBODY RELIABILITY

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Data reliability
description

Antibody staining mainly consistent with RNA expression data. Presumed off target binding observed and disregarded.

Data reliability

Supportive based on 2 antibodies.
HPA036401 , HPA042021
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Group enriched (kidney, liver)

Organ

Expression

GTEx dataset
RNA tissue category:  Group enriched (kidney, liver)

Organ

Expression



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 BROWSER

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ENST00000231887
 
ENST00000440662
 
ENST00000456310
 
 
 
 


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