1. Gene
  2. ECHDC2 - enoyl-CoA hydratase domain containing 2 Gene

ECHDC2 - enoyl-CoA hydratase domain containing 2 Gene

Homo sapiens
Gene ID: 55268 | Gene type: protein coding

About ECHDC2

This gene has 26 transcripts (splice variants), 203 orthologues and 13 paralogues. Ubiquitous expression in liver (RPKM 18.0), ovary (RPKM 13.9) and 25 other tissues.

Summary

Predicted to enable enoyl-CoA hydratase activity. Predicted to be involved in fatty acid beta-oxidation. Predicted to be active in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022]

ECHDC2 Products(4)

mRNA Protein Name
NM_001198961.2 NP_001185890.1 enoyl-CoA hydratase domain-containing protein 2, mitochondrial isoform 1
NM_001198962.1 NP_001185891.1 enoyl-CoA hydratase domain-containing protein 2, mitochondrial isoform 3
NM_001319958.2 NP_001306887.1 enoyl-CoA hydratase domain-containing protein 2, mitochondrial isoform 4
NM_018281.4 NP_060751.2 enoyl-CoA hydratase domain-containing protein 2, mitochondrial isoform 2

ECHDC2 Protein Structure

ECH_1

ECH_1: Enoyl-CoA hydratase/isomerase (40 - 284)

  • 0
  • 100
  • 200
  • 292 a.a.
Protein Preferred Names Protein Names

enoyl-CoA hydratase domain-containing protein 2, mitochondrial

enoyl Coenzyme A hydratase domain containing 2

Related Diseases

Diseases Alias
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

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
Bos taurus ECHDC2 VGNC VGNC:55168
Felis catus ECHDC2 VGNC VGNC:80192
Mus musculus ECHDC2 MGD MGI:1289238
Macaca mulatta ECHDC2 VGNC VGNC:81390
Rattus norvegicus ECHDC2 RGD RGD:1308525