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

Homo sapiens

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

Gene ID: 51102 | Gene type: protein coding

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_zinc_N

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

Cat. No.	Product Name	Accession	Purity
HY-P70140	MECR Protein, Human (HEK293, His)	AAH01419.1 (P54-M373)	≥95%

Related Diseases

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08277	MECR Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	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