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

ECHDC2 - enoyl-CoA hydratase domain containing 2 Gene

中文名称:含烯酰辅酶 A 水合酶结构域 2

种属: Homo sapiens

基因 ID: 55268 | 基因类型: protein coding

关于 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.

功能概要

预测启用烯酰辅酶 A 水合酶活性。预测参与脂肪酸β-氧化。预测在线粒体中活跃。 [由基因组资源联盟提供,2022 年 4 月]

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 基因产物(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 蛋白结构

ECH_1

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

  • 0
  • 100
  • 200
  • 292 a.a.
蛋白主名 其他名称

enoyl-CoA hydratase domain-containing protein 2, mitochondrial

enoyl Coenzyme A hydratase domain containing 2

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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