2. Gene
  3. ECHDC1 - ethylmalonyl-CoA decarboxylase 1 Gene

ECHDC1 - ethylmalonyl-CoA decarboxylase 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as MMCD; HEL-S-76; dJ351K20.2

Gene ID: 55862 | Gene type: protein coding

About ECHDC1

Cytogenetic location: 6q22.33 Genomic coordinates (GRCh38): 6:127,288,712-127,343,609 (from NCBI)

This gene has 23 transcripts (splice variants), 211 orthologues and 13 paralogues. Ubiquitous expression in fat (RPKM 43.4), kidney (RPKM 24.8) and 25 other tissues.

Summary

Predicted to enable carboxy-lyase activity and enoyl-CoA hydratase activity. Predicted to be involved in fatty acid beta-oxidation. Predicted to be integral component of membrane. Predicted to be active in cytosol. [provided by Alliance of Genome Resources, Apr 2022]

ECHDC1 Products(5)

mRNA Protein Name
NM_001002030.2 NP_001002030.1 ethylmalonyl-CoA decarboxylase isoform 1
NM_001105544.2 NP_001099014.1 ethylmalonyl-CoA decarboxylase isoform 3
NM_001105545.2 NP_001099015.1 ethylmalonyl-CoA decarboxylase isoform 4
NM_001139510.2 NP_001132982.1 ethylmalonyl-CoA decarboxylase isoform 5
NM_018479.4 NP_060949.2 ethylmalonyl-CoA decarboxylase isoform 2

ECHDC1 Protein Structure

ECH_1

ECH_1: Enoyl-CoA hydratase/isomerase (60 - 286)

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

ethylmalonyl-CoA decarboxylase

enoyl CoA hydratase domain containing 1

Related Diseases

Diseases Alias
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of

Scad Deficiency

Acads Deficiency

Lipid-Storage Myopathy Secondary To Short-Chain Acyl-Coa Dehydrogenase Deficiency

Scadh Deficiency

Short-Chain Acyl-Coa Dehydrogenase Deficiency

Deficiency Of Butyryl-Coa Dehydrogenase

Short Chain Acyl-Coa Dehydrogenase Deficiency

ACADSD

Scadd

Short-Chain Acyl-Coenzyme A Dehydrogenase Deficiency

Acyl-Coa Dehydrogenase, Short Chain, Deficiency Of

Acyl-Coa Dehydrogenase Short-Chain Deficiency
L-2-Hydroxyglutaric Aciduria

L-2-Hydroxyglutaric Acidemia

L2HGA

L-2-Hga

Aciduria, L-2-Hydroxyglutaric

Combined D-2- And L-2-Hydroxyglutaric Aciduria
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

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS04137 ECHDC1 Human Pre-designed siRNA Set A / Unkown

Orthologs Information

Species Symbol Source ID
Macaca mulatta ECHDC1 VGNC VGNC:81063
Canis familiaris ECHDC1 VGNC VGNC:40185
Mus musculus ECHDC1 MGD MGI:1277169
Bos taurus ECHDC1 VGNC VGNC:28306
Rattus norvegicus ECHDC1 RGD RGD:1359654
Felis catus ECHDC1 VGNC VGNC:97409