1. Gene
  2. EHHADH - enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase Gene

EHHADH - enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase Gene

Homo sapiens

Also known as LBP; ECHD; LBFP; MFE1; PBFE; FRTS3; L-PBE

Gene ID: 1962 | Gene type: protein coding

About EHHADH

Cytogenetic location: 3q27.2 Genomic coordinates (GRCh38): 3:185,190,624-185,254,049 (from NCBI)

This gene has 6 transcripts (splice variants), 204 orthologues, 3 paralogues and is associated with 3 phenotypes. Biased expression in liver (RPKM 75.1), kidney (RPKM 65.6) and 8 other tissues.

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]

EHHADH Products(2)

mRNA Protein Name
NM_001166415.2 NP_001159887.1 peroxisomal bifunctional enzyme isoform 2
NM_001966.4 NP_001957.2 peroxisomal bifunctional enzyme isoform 1

EHHADH Protein Structure

ECH_1

ECH_1: Enoyl-CoA hydratase/isomerase (5 - 241)

3HCDH_N

3HCDH_N: 3-hydroxyacyl-CoA dehydrogenase, NAD binding domain (300 - 475)

3HCDH

3HCDH: 3-hydroxyacyl-CoA dehydrogenase, C-terminal domain (478 - 582)

3HCDH

3HCDH: 3-hydroxyacyl-CoA dehydrogenase, C-terminal domain (619 - 709)

  • 0
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  • 723 a.a.
Protein Preferred Names Protein Names

peroxisomal bifunctional enzyme

3,2-trans-enoyl-CoA isomerase

Related Diseases

Diseases Alias
Fanconi Renotubular Syndrome 3

FRTS3

Fanconi Renotubular Syndrome, Type 3

D-Bifunctional Protein Deficiency

Bifunctional Peroxisomal Enzyme Deficiency

17-Beta-Hydroxysteroid Dehydrogenase Iv Deficiency

Dbp Deficiency

Peroxisomal Bifunctional Enzyme Deficiency

Pbfe Deficiency

Bifunctional Enzyme Deficiency

Pseudo-Zellweger Syndrome

Zellweger-Like Syndrome

DBPD

Protein Deficiency, D-Bifunctional

Fanconi Syndrome

Infantile Nephropathic Cystinosis

Adult Fanconi Syndrome

Congenital Fanconi Syndrome

De Toni-Fanconi Syndrome

Fanconi-De Toni Syndrome

Lignac-Fanconi Syndrome

Fanconi Renotubular Syndrome

Primary Fanconi Renotubular Syndrome

De Toni-Debre-Fanconi Syndrome

Adult Fanconi Anemia

Detoni Fanconi Syndrome

Fanconi-De-Toni Syndrome

Primary Fanconi Syndrome

Detoni-Debre-Fanconi Syndrome

Primary Fanconi Renal Syndrome

Fanconi Anemia

Cystinosis, Infantile Nephropathic

Fanconi-Bickel Syndrome

Renal Fanconi Syndrome

Lowe-Bickel Syndrome

Adrenoleukodystrophy

X-Linked Adrenoleukodystrophy

ALD

Siemerling-Creutzfeldt Disease

X-Ald

X-Linked Cerebral Adrenoleukodystrophy

Bronze Schilder Disease

Melanodermic Leukodystrophy

Addison Disease And Cerebral Sclerosis

Adrenomyeloneuropathy, Adult

Diffuse Sclerosis

X-Cald

Adrenomyeloneuropathy

Encephalitis Periaxialis Concentrica

Encephalitis Periaxialis, Schilder'S

Sudanophilic Cerebral Sclerosis

Ald Childhood Cerebral Form

Adrenoleukodystrophy X-Linked Cerebral Form

Adrenoleukodystrophy Childhood Cerebral Form

Childhood Cerebral Ald

Schilder Disease

X-Linked Ald

Adrenoleukodystrophy, X-Linked

Amn

Diffuse Cerebral Sclerosis Of Schilder

Systemic Scleroderma

Balo'S Concentric Sclerosis

Ald - [Adrenoleukodystrophy]

Addison-Schilder

Zellweger Syndrome

Cerebrohepatorenal Syndrome

Zellweger Leukodystrophy

Zs

Congenital Iron Overload

Chr

Zws

Severe Pbd-Zsd

Severe Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder

Mitochondrial Trifunctional Protein Deficiency

Tfp Deficiency

MTPD

Trifunctional Protein Deficiency

Trifunctional Protein Deficiency With Myopathy And Neuropathy

Tfpd

Familial Hypertrophic Cardiomyopathy

Cardiomyopathy Familial Hypertrophic

Familial Hcm

Heritable Hypertrophic Cardiomyopathy

Mtp Deficiency

Tpa Deficiency

Trifunctional Protein Deficiency, Type 2

Abetalipoproteinemia

3-Methylglutaconic Aciduria, Type I

3-Methylglutaconyl-Coa Hydratase Deficiency

3-Methylglutaconic Aciduria Type 1

Mga1

MGCA1

3mg-Coa Hydratase Deficiency

Mga Type I

Mga, Type I

3-Mg-Coa-Hydratase Deficiency

3 Methylglutaconyl Coa Hydratase Deficiency

3-Methylglutaconic Aciduria Type I

3 Alpha Methylglutaconic Aciduria Type I

3 Methylglutaconic Aciduria Type 1

3-Mgca Type I

3mg Coa Hydratase Deficiency

Auh Defect

Primary 3-Methylglutaconic Aciduria

3-Methylglutaconic Aciduria 1

3-Alpha-Methylglutaconic Aciduria Type 1

3-Alpha-Methylglutaconyl-Coa Hydratase Deficiency

3-@Methylglutaconic Aciduria, Type I

Megaloblastic Anemia Due To Inborn Errors Of Metabolism

Neonatal Adrenoleukodystrophy

Nald

Adrenoleukodystrophy Autosomal Neonatal Form

Intermediate Pbd-Zsd

Intermediate Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder

Adrenoleukodystrophy, Autosomal, Neonatal Form

Adrenoleukodystrophy Neonatal

Adrenoleukodystrophy, Neonatal

Ureter Transitional Cell Carcinoma

Transitional Cell Carcinoma Of Ureter

Ureteral Urothelial Cell Carcinoma

Aminoaciduria
Apical Myocardial Infarction
Peroxisomal Biogenesis Disorder

Zellweger Spectrum Disorders

Peroxisome Biogenesis Disorder-Zellweger Syndrome Spectrum

Disorders Of Peroxisome Biogenesis

Zellweger Spectrum

Zellweger Syndrome Spectrum

Peroxisomal Biogenesis Disorders

Pbd, Zss

Pbd-Zsd

Pbd-Zss

Pbd-Zellweger Spectrum Disorder

Peroxisomal Biogenesis Disorders, Zellweger Syndrome Spectrum

Peroxisome Biogenesis Disorder

Peroxisome Biogenesis Disorder Spectrum

Peroxisome Biogenesis Disorders

Zellweger Spectrum Disorder

Hyperpipecolic Acidaemia

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus EHHADH RGD RGD:621441
Canis familiaris EHHADH VGNC VGNC:40250
Bos taurus EHHADH VGNC VGNC:53541
Felis catus EHHADH VGNC VGNC:61766
Mus musculus EHHADH MGD MGI:1277964
Macaca mulatta EHHADH VGNC VGNC:72179