ECI2 - enoyl-CoA delta isomerase 2 Gene

Homo sapiens

Also known as DRS1; PECI; ACBD2; DRS-1; HCA88; dJ1013A10.3

Gene ID: 10455 | Gene type: protein coding

About ECI2

Cytogenetic location: 6p25.2 Genomic coordinates (GRCh38): 6:4,115,706-4,135,575 (from NCBI)

This gene has 11 transcripts (splice variants), 227 orthologues and 4 paralogues. Ubiquitous expression in liver (RPKM 93.4), kidney (RPKM 88.4) and 25 other tissues.

Summary

This gene encodes a member of the hydratase/isomerase superfamily. The protein encoded is a key mitochondrial Enzyme involved in beta-oxidation of unsaturated fatty acids. It catalyzes the transformation of 3-cis and 3-trans-enoyl-CoA esters arising during the stepwise degradation of cis-, mono-, and polyunsaturated fatty acids to the 2-trans-enoyl-CoA intermediates. Alternatively spliced transcript variants have been described. [provided by RefSeq, Aug 2011]

ECI2 Products(3)

mRNA	Protein	Name
NM_001166010.2	NP_001159482.1	enoyl-CoA delta isomerase 2 isoform 1
NM_006117.3	NP_006108.2	enoyl-CoA delta isomerase 2 isoform 1
NM_206836.3	NP_996667.2	enoyl-CoA delta isomerase 2 isoform 2

ECI2 Protein Structure

ACBP

ECH_1

0
100
200
300
394 a.a.

Protein Preferred Names

Protein Names

enoyl-CoA delta isomerase 2

D3,D2-enoyl-CoA isomerase

Related Diseases

Diseases

Alias

Retinal Dystrophy With Leukodystrophy

RDLKD	Acbd5 Deficiency
Dystrophy, Retinal, With Leukodystrophy

Hepatocellular Carcinoma

Liver Cancer	Primary Liver Cancer
HCC	Hepatoma
Malignant Neoplasm Of Liver	Liver Neoplasms
Cancer, Hepatocellular	Liver Cell Carcinoma
Lcc	Hepatoblastoma, Somatic
Hepatic Cancer	Primary Malignant Neoplasm Of Liver
Rare Tumor Of Liver And Intrahepatic Biliary Tract	Hepatocellular Carcinoma, Somatic
Hepatocellular Carcinoma, Childhood Type, Somatic	Hepatocellular Cancer, Somatic
Ca Liver - Primary	Hepatic Neoplasm
Malignant Hepato-Biliary Neoplasm	Malignant Neoplasm Of Liver, Not Specified As Primary Or Secondary
Malignant Neoplasm Of Liver, Primary	Malignant Tumor Of Liver
Neoplasm Of Liver	Non-Resectable Primary Hepatic Malignant Neoplasm
Resectable Malignant Neoplasm Of Liver	Resectable Malignant Neoplasm Of The Liver
Primary Liver Carcinoma	Primary Malignant Liver Neoplasm
Primary Cancer Of Liver	Primary Tumor Of The Liver
Rare Tumor Of Liver And Ibt	Hepatocellular Cancer
Neoplasm Of The Liver	Carcinoma, Hepatocellular
Hepatomas	Liver Neoplasm
Liver Carcinoma	Liver And Intrahepatic Biliary Tract Carcinoma
Malignant Hepatobiliary Neoplasm	Adult Primary Hepatocellular Carcinoma
Hepatoblastoma	Carcinoma Of Liver
Malignant Liver Tumour	Malignant Hepatic Tumour

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

Zellweger Syndrome

Cerebrohepatorenal Syndrome	Zellweger Leukodystrophy
Zs	Congenital Iron Overload
Chr	Zws
Severe Pbd-Zsd	Severe Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04142	ECI2 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	ECI2	VGNC	VGNC:61710
Bos taurus	ECI2	VGNC	VGNC:28310
Rattus norvegicus	ECI2	RGD	RGD:1359427
Macaca mulatta	ECI2	VGNC	VGNC:72048
Mus musculus	ECI2	MGD	MGI:1346064
Canis familiaris	ECI2	VGNC	VGNC:40186