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

Also Known as ETR1; NRBF1; CGI-63; FASN2B; DYTOABG

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子ID: 51102

About 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.

Summary

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 Products (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 Protein Structure

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.
Protein Preferred Names Protein Names

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

  • 2-enoyl thioester reductase

Recombinant MECR Proteins

製品番号 製品名 アクセッション番号 純度
HY-P70140 MECR Protein, Human (HEK293, His) AAH01419.1 (P54-M373) ≥ 95%, as determined by reducing SDS-PAGE.

関連疾患

Diseases Alias
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
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

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)
製品番号 製品名
製品効果
純度
Rare Diseases
HY-RS08277 MECR Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS18773 Mecr Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS25261 Mecr Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

生物種 Symbol 由来 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