2. Gene
  3. MECR - mitochondrial trans-2-enoyl-CoA reductase Gene

MECR - mitochondrial trans-2-enoyl-CoA reductase Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：线粒体反式-2-烯酰辅酶 A 还原酶

种属: Homo sapiens

同用名: ETR1; NRBF1; CGI-63; FASN2B; DYTOABG

基因 ID: 51102 | 基因类型: protein coding

关于 MECR

Cytogenetic location: 1p35.3 Genomic coordinates (GRCh38): 1:29,167,696-29,230,934 (from NCBI)

This gene has 18 transcripts (splice variants), 207 orthologues, 17 paralogues and is associated with 3 phenotypes. Ubiquitous expression in fat (RPKM 6.2), brain (RPKM 3.9) and 25 other tissues.

功能概要

该基因编码的蛋白质是一种氧化还原酶，可催化线粒体脂肪酸合成的最后一步。该基因的缺陷是导致儿童期肌张力障碍和视神经萎缩的原因。[RefSeq 提供，2017 年 3 月]

The protein encoded by this gene is an oxidoreductase that catalyzes the last step in mitochondrial fatty acid synthesis. Defects in this gene are a cause of childhood-onset dystonia and optic atrophy. [provided by RefSeq, Mar 2017]

MECR 基因产物(9)

mRNA Protein Name
NM_001024732.4 NP_001019903.3 enoyl-[acyl-carrier-protein] reductase, mitochondrial isoform b
NM_001349711.2 NP_001336640.1 enoyl-[acyl-carrier-protein] reductase, mitochondrial isoform b
NM_001349712.2 NP_001336641.1 enoyl-[acyl-carrier-protein] reductase, mitochondrial isoform b
NM_001349713.2 NP_001336642.1 enoyl-[acyl-carrier-protein] reductase, mitochondrial isoform b
NM_001349714.2 NP_001336643.1 enoyl-[acyl-carrier-protein] reductase, mitochondrial isoform b
NM_001349715.2 NP_001336644.1 enoyl-[acyl-carrier-protein] reductase, mitochondrial isoform c
NM_001349716.2 NP_001336645.1 enoyl-[acyl-carrier-protein] reductase, mitochondrial isoform d
NM_001349717.2 NP_001336646.1 enoyl-[acyl-carrier-protein] reductase, mitochondrial isoform e
NM_016011.5 NP_057095.4 enoyl-[acyl-carrier-protein] reductase, mitochondrial isoform a

MECR 蛋白结构

ADH_N

ADH_N: Alcohol dehydrogenase GroES-like domain (72 - 131)

ADH_zinc_N

ADH_zinc_N: Zinc-binding dehydrogenase (195 - 327)

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

enoyl-[acyl-carrier-protein] reductase, mitochondrial

2-enoyl thioester reductase

重组 MECR 蛋白

目录号 产品名 蛋白编号 纯度
HY-P70140 MECR Protein, Human (HEK293, His) AAH01419.1 (P54-M373) ≥95%

关联疾病

疾病名称 别名
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities

Mepan Syndrome

Dyt29

DYTOABG

Dystonia 29, Childhood-Onset

Autosomal Recessive Childhood-Onset Dystonia, Dyt29 Type

Childhood-Onset Generalized Dystonia-Optic Atrophy Syndrome

Dystonia 29

Mitochondrial Enoyl Coa Reductase Protein-Associated Neurodegeneration Syndrome
3-Methylglutaconic Aciduria, Type Iii

Optic Atrophy

3-Methylglutaconic Aciduria Type 3

Costeff Syndrome

Mga3

Costeff Optic Atrophy Syndrome

Optic Atrophy Plus Syndrome

Infantile Optic Atrophy With Chorea And Spastic Paraplegia

3-Methylglutaconic Aciduria Type Iii

Autosomal Recessive Optic Atrophy Plus Syndrome

Autosomal Recessive Optic Atrophy Type 3

Opa3 Defect

MGCA3

Mga, Type Iii

Iraqi Jewish Optic Atrophy Plus

Mga Type Iii

Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia

Iraqi-Jewish 'Optic Atrophy Plus'

Optic Atrophy 3, Autosomal Recessive

Opa3, Autosomal Recessive

Opa3-Related 3-Methylglutaconic Aciduria

Iraqi-Jewish Optic Atrophy Plus

Atrophy Of Optic Disc

3-Alpha Methylglutaconic Aciduria Type Iii

Optic Atrophy 3

Optic Atrophy Infantile With Chorea And Spastic Paraplegia

Autosomal Recessive Opa3

Autosomal Recessive Optic Atrophy 3

3-Methylglutaconic Aciduria 3

3-Alpha-Methylglutaconic Aciduria Type 3

Optic Atrophy 3 Autosomal Recessive

Atrophy, Optic

Atrophy, Optic, Plus Syndrome

Optic Nerve Atrophy

Primary Optic Atrophy

Oa - [Optic Atrophy]

Second Cranial Nerve Atrophy

Second Cranium Nerve Atrophy
Cleft Palate, Cardiac Defects, And Mental Retardation

Cardiac Malformation, Cleft Lip/Palate, Microcephaly, And Digital Anomalies

CPCMR

Cleft Palate, Cardiac Defects, And Intellectual Disabillity

Cleft Palate, Cardiac Defects, And Intellectual Disability

Cardiac Malformation, Cleft Lip-Palate, Microcephaly And Digital Anomalies
Dystonia

Dystonic Disease

Dystonic Disorder

Dystonia Disorders

Neuroleptic Dyskinesia
Optic Atrophy 2

OPA2

Optic Atrophy, X-Linked

Optic Atrophy, Non-Leber Type, With Early Onset

Optic Atrophy 2, X-Linked

X-Linked Optic Atrophy 2

Early-Onset X-Linked Optic Atrophy

Non-Leber Type Optic Atrophy With Early-Onset

Optic Atrophy Type 2

Atrophy, Optic, Type 2
Mitochondrial Dna Depletion Syndrome 6

Navajo Neurohepatopathy

Navajo Neuropathy

MTDPS6

Nnh

Nn

Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome

Navajo Familial Neurogenic Arthropathy

Mpv17-Associated Hepatocerebral Mds

Mitochondrial Dna Depletion 6 Hepatocerebral Type

Mitochondrial Dna Depletion Syndrome , Type 6
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS08277 MECR Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta MECR VGNC VGNC:74536
Canis familiaris MECR VGNC VGNC:43116
Felis catus MECR VGNC VGNC:63430
Rattus norvegicus MECR RGD RGD:3208
Bos taurus MECR VGNC VGNC:31345
Mus musculus MECR MGD MGI:1349441
Others MECR NCBI
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