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  2. ME2 - malic enzyme 2 Gene

ME2 - malic enzyme 2 Gene

中文名称:苹果酸酶 2

种属: Homo sapiens

同用名: ODS1

基因 ID: 4200 | 基因类型: protein coding

关于 ME2

Cytogenetic location: 18q21.2 Genomic coordinates (GRCh38): 18:50,879,118-50,954,257 (from NCBI)

This gene has 19 transcripts (splice variants), 212 orthologues and 2 paralogues. Ubiquitous expression in duodenum (RPKM 15.0), colon (RPKM 14.1) and 25 other tissues.

功能概要

该基因编码线粒体 NAD 依赖性苹果酸酶,一种同源四聚体蛋白,可催化苹果酸氧化脱羧为丙酮酸。它以前与一种称为 Friedreich 共济失调的综合症有微弱的联系,此后被证明是完全不同的基因突变的结果。该基因的某些单核苷酸多态性单倍型已被证明会增加特发性全身性癫痫的风险。为该基因发现的编码不同亚型的选择性剪接转录变体。[RefSeq 提供,2009 年 12 月]

This gene encodes a mitochondrial NAD-dependent malic Enzyme, a homotetrameric protein, that catalyzes the oxidative decarboxylation of malate to pyruvate. It had previously been weakly linked to a syndrome known as Friedreich ataxia that has since been shown to be the result of mutation in a completely different gene. Certain single-nucleotide polymorphism haplotypes of this gene have been shown to increase the risk for idiopathic generalized epilepsy. Alternatively spliced transcript variants encoding different isoforms found for this gene. [provided by RefSeq, Dec 2009]

ME2 基因产物(2)

mRNA Protein Name
NM_001168335.2 NP_001161807.1 NAD-dependent malic enzyme, mitochondrial isoform 2 precursor
NM_002396.5 NP_002387.1 NAD-dependent malic enzyme, mitochondrial isoform 1 precursor

ME2 蛋白结构

malic

malic: Malic enzyme, N-terminal domain (89 - 270)

Malic_M

Malic_M: Malic enzyme, NAD binding domain (280 - 533)

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  • 500
  • 584 a.a.
蛋白主名 其他名称

NAD-dependent malic enzyme, mitochondrial

NAD-ME

重组 ME2 蛋白

目录号 产品名 蛋白编号 纯度
HY-P71918 NAD-ME Protein, Human (His) P23368 (M19-E584) ≥95%
HY-P71918A NAD-ME Protein, Human (N-His) P23368 (L19-E584) ≥95%

关联疾病

疾病名称 别名
Epilepsy, Idiopathic Generalized

Idiopathic Generalized Epilepsy

Generalised Epilepsy

Epilepsy, Generalized

EIG

Ige

Epilepsy, Idiopathic Generalized, Susceptibility To, 1

Epilepsy, Idiopathic Generalized 1

Epilepsy, Idiopathic Generalized, Susceptibility To

Epilepsy, Idiopathic, Generalized

Epilepsy, Idiopathic, Generalized, Susceptibility To, Type 1

Epilepsy

Epilepsy Syndrome

Epileptic Syndrome

Epilepsies

Symptomatic Epilepsies

Post Traumatic Epilepsy

Traumatic Epilepsy

Traumatic Epileptic

Epilepsy Due To Hippocampal Sclerosis

Epilepsy With Ammon'S Horn Sclerosis

Epilepsy Due To Cortical Dysplasia

Epilepsy Due To Neuronal Migration Disorders

Epilepsy, Myoclonic Juvenile

Juvenile Myoclonic Epilepsy

Janz Syndrome

Jme

Myoclonic Epilepsy, Juvenile, Susceptibility To, 1

EJM

Myoclonic Epilepsy, Juvenile

Petit Mal, Impulsive

Myoclonic Epilepsy, Juvenile 1

Myoclonic Epilepsy, Juvenile, 1

Adolescent Myoclonic Epilepsy

Juvenile Myoclonus Epilepsy

Juvenile Myoclonic Epilepsy 1

EJM1

Petit Mal Impulsive

Susceptibility To Juvenile Myoclonic Epilepsy 1

Myoclonic Epilepsy Juvenile

Epilepsy, Myoclonic, Juvenile

Myoclonic Epilepsy Of Janz

Jme - [Juvenile Myoclonic Epilepsy]

Generalized Epilepsy With Febrile Seizures Plus

Gefs+

Genetic Epilepsy With Febrile Seizures Plus

Generalized Epilepsy With Febrile Seizures-Plus

Genetic Epilepsy With Febrile Seizures-Plus

Epilepsy, Generalized, With Febrile Seizures Plus

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 ME2 VGNC VGNC:97791
Felis catus ME2 VGNC VGNC:68226
Canis familiaris ME2 VGNC VGNC:43110
Rattus norvegicus ME2 RGD RGD:1310321
Mus musculus ME2 MGD MGI:2147351
Bos taurus ME2 VGNC VGNC:31340
Others ME2 NCBI