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  2. ENO3 - enolase 3 Gene

ENO3 - enolase 3 Gene

中文名称:烯醇酶 3

种属: Homo sapiens

同用名: MSE; GSD13

基因 ID: 2027 | 基因类型: protein coding

关于 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.

功能概要

该基因编码哺乳动物中发现的三种烯醇化酶同工酶之一。这种同工酶存在于成人的骨骼肌细胞中,它可能在肌肉发育和再生中发挥作用。在啮齿类动物的发育过程中,肌肉组织会发生从 α 烯醇化酶到 β 烯醇化酶的转变。该基因的突变与糖原贮积病有关。已经描述了编码不同亚型的选择性剪接转录变体。[RefSeq 提供,2010 年 7 月]

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 基因产物(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 蛋白结构

Enolase_N

Enolase_N: Enolase, N-terminal domain (3 - 134)

Enolase_C

Enolase_C: Enolase, C-terminal TIM barrel domain (143 - 431)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 434 a.a.
蛋白主名 其他名称

beta-enolase

2-phospho-D-glycerate hydrolyase

重组 ENO3 蛋白

目录号 产品名 蛋白编号 纯度
HY-P75732 Enolase 3/ENO3 Protein, Human (His) P13929 (M1-K434) ≥95%

关联疾病

疾病名称 别名
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

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
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