ENO3 - enolase 3 Gene

Homo sapiens

Also known as MSE; GSD13

Gene ID: 2027 | Gene type: protein coding

About ENO3

Cytogenetic location: 17p13.2 Genomic coordinates (GRCh38): 17:4,948,710-4,957,129 (from NCBI)

This gene has 17 transcripts (splice variants), 201 orthologues, 3 paralogues and is associated with 2 phenotypes. Biased expression in heart (RPKM 88.5), esophagus (RPKM 45.6) and 2 other tissues.

Summary

This gene encodes one of the three Enolase isoenzymes found in mammals. This isoenzyme is found in skeletal muscle cells in the adult where it may play a role in muscle development and regeneration. A switch from alpha Enolase to beta Enolase occurs in muscle tissue during development in rodents. Mutations in this gene have be associated glycogen storage disease. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Jul 2010]

ENO3 Products(5)

mRNA	Protein	Name
NM_001193503.2	NP_001180432.1	beta-enolase isoform 2
NM_001374523.1	NP_001361452.1	beta-enolase isoform 1
NM_001374524.1	NP_001361453.1	beta-enolase isoform 3
NM_001976.5	NP_001967.3	beta-enolase isoform 1
NM_053013.4	NP_443739.3	beta-enolase isoform 1

ENO3 Protein Structure

Enolase_N

Enolase_C

0
100
200
300
400
434 a.a.

Protein Preferred Names

Protein Names

beta-enolase

2-phospho-D-glycerate hydrolyase

Recombinant ENO3 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P75732	Enolase 3/ENO3 Protein, Human (His)	P13929 (M1-K434)	≥95%

Related Diseases

Diseases

Alias

Glycogen Storage Disease Xiii

GSD13	Enolase 3 Deficiency
Enolase-Beta Deficiency	Glycogen Storage Disease Due To Muscle Beta-Enolase Deficiency
Gsd Xiii	Glycogen Storage Disease 13
Glycogen Storage Disease Type 13	Gsd Due To Muscle Beta-Enolase Deficiency
Gsdxiii	Glycogenosis Due To Muscle Beta-Enolase Deficiency
Glycogenosis Type 13	Muscle Enolase Deficiency
Muscular Enolase Deficiency	Glycogenosis Type Xiii
Muscle-Specific Enolase-Beta Deficiency	Storage Disease, Glycogen, Type 13

Glycogen Storage Disease

Glycogenosis	Glycogenoses
Gsd	Storage Disease, Glycogen
Gsd - [Glycogen Storage Disease]	Glycogen Thesaurismosis
Diffuse Glycogenosis	Generalised Glycogen Storage Disease
Generalised Glycogenosis	Generalised Glycogen Storage Disease Of Infants
Glycogen Synthase Deficiency

Fish Allergy

Allergy To Fish

Glycogen Storage Disease Vii

Glycogen Storage Disease Type Vii	Muscle Phosphofructokinase Deficiency
Tarui Disease	GSD7
Pfkm Deficiency	Gsd Vii
Glycogen Storage Disease, Type Vii	Glycogen Storage Disease Type 7
Phosphofructokinase Deficiency	Glycogenosis Type Vii
Phosphofructokinase Myopathy	Glycogenosis 7
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Gsd Due To Muscle Phosphofructokinase Deficiency
Gsd Type 7	Gsd Type Vii
Glycogenosis Due To Muscle Phosphofructokinase Deficiency	Glycogenosis Type 7
Glycogen Storage Disease 7	Gsd-Vii
Storage Disease, Glycogen, Type Vii

Combined Oxidative Phosphorylation Deficiency 4

COXPD4	Combined Oxidative Phosphorylation Defect Type 4
Combined Oxidative Phosphorylation Deficiency, Type 4

Glycogen Storage Disease V

Mcardle Disease	Myophosphorylase Deficiency
Glycogen Storage Disease Type V	Muscle Glycogen Phosphorylase Deficiency
Pygm Deficiency	Gsd V
Glycogen Storage Disease, Type V	Glycogenosis Type V
Glycogen Storage Disease Type 5	GSD5
Pygmy	Mcardle'S Disease
Mcardle Type Glycogen Storage Disease	Gsd Type V
Pygmy, African	Gsdv
Gsd 5	Glycogenosis 5
Mcardle Syndrome	Muscle Phosphorylase Deficiency
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Gsd Due To Muscle Glycogen Phosphorylase Deficiency
Gsd Type 5	Glycogenosis Due To Muscle Glycogen Phosphorylase Deficiency
Glycogenosis Type 5	Glycogen Storage Disease 5
Gsd-V	Mcardles Disease
Storage Disease, Glycogen, Type V

Primary Cutaneous Amyloidosis

Plca	Primary Localized Cutaneous Amyloidosis
Familial Primary Localized Cutaneous Amyloidosis	Amyloidosis Ix
Lichen Amyloidosis Familial	Amyloidosis, Primary Cutaneous
Pca	Amyloidosis 9
Amyloidosis Familial Cutaneous Lichen	Fplca
Familial Lichen Amyloidosis

Cardiomyopathy, Familial Hypertrophic, 1

Asymmetric Septal Hypertrophy	Familial Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 1	CMH1
Hypertrophic Cardiomyopathy 19	CMH
Ventricular Hypertrophy, Hereditary	Ash
Hypertrophic Subaortic Stenosis, Idiopathic	Cardiomyopathy, Familial Hypertrophic
Cardiomyopathy, Hypertrophic, 1, Digenic	Cardiomyopathy, Familial Hypertrophic 1
Hcm	Hereditary Ventricular Hypertrophy
Idiopathic Hypertrophic Subaortic Stenosis	Hypertrophic Cardiomyopathy
Cardiomyopathy, Hypertrophic, Familial	Cardiomyopathy, Hypertrophic, 1
Familial Asymmetric Septal Hypertrophy	Heritable Hypertrophic Cardiomyopathy
Fhc	Cardiomyopathy, Hypertrophic, Familial, Type 1

Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis	ALS
Lou Gehrig Disease	Amyotrophic Lateral Sclerosis Type 1
Charcot Disease	ALS1
Amyotrophic Lateral Sclerosis, Susceptibility To	Fals
Lou Gehrig'S Disease	Mnd
Motor Neuron Disease	Familial Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 1, Familial	Amyotrophic Lateral Sclerosis 1, Autosomal Dominant
Motor Neuron Disease, Bulbar	Motor Neurone Disease
Amyotrophic Lateral Sclerosis With Dementia	Dementia With Amyotrophic Lateral Sclerosis
Motor Neuron Disease, Amyotrophic Lateral Sclerosis	Sclerosis, Lateral, Amyotrophic
Sclerosis, Lateral, Amyotrophic, Type 1	Amyotrophic Sclerosis
Als - [Amyotrophic Lateral Sclerosis]	Wasting Palsy
Amyotrophic Paralysis	Amyotrophy Lateral Sclerosis
Wasting Paralysis	Spinal Progressive Amyotrophy
Progressive Atrophic Paralysis

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-RS04380	ENO3 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	ENO3	VGNC	VGNC:72220
Mus musculus	ENO3	MGD	MGI:95395
Rattus norvegicus	ENO3	RGD	RGD:2555
Bos taurus	ENO3	VGNC	VGNC:28498
Canis familiaris	ENO3	VGNC	VGNC:40367
Felis catus	ENO3	VGNC	VGNC:97417
Others	ENO3	NCBI