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] See more...

Aliases for MECR Gene

Aliases for MECR Gene

  • Mitochondrial Trans-2-Enoyl-CoA Reductase 2 3 5
  • Enoyl-[Acyl-Carrier-Protein] Reductase, Mitochondrial 3 4
  • Mitochondrial 2-Enoyl Thioester Reductase 2 3
  • Nuclear Receptor Binding Factor 1 2 3
  • 2-Enoyl Thioester Reductase 3 4
  • CGI-63 2 3
  • FASN2B 2 3
  • NRBF1 2 3
  • ETR1 2 3
  • Homolog Of Yeast 2-Enoyl Thioester Reductase 3
  • Trans-2-Enoyl-CoA Reductase, Mitochondrial 3
  • Nuclear Receptor-Binding Factor 1 4
  • EC 1.3.1.104 4
  • EC 1.3.1.38 51
  • HsNrbf-1 4
  • DYTOABG 3
  • NRBF-1 4
  • NBRF1 4
  • MECR 5

External Ids for MECR Gene

Previous GeneCards Identifiers for MECR Gene

  • GC01M029341
  • GC01M029391
  • GC01M029519
  • GC01M027771
  • GC01M029167

Summaries for MECR Gene

Entrez Gene Summary for MECR Gene

  • 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]

GeneCards Summary for MECR Gene

MECR (Mitochondrial Trans-2-Enoyl-CoA Reductase) is a Protein Coding gene. Diseases associated with MECR include Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities and 3-Methylglutaconic Aciduria, Type Iii. Among its related pathways are Fatty acid biosynthesis (KEGG) and Metabolism. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and trans-2-enoyl-CoA reductase (NADPH) activity. An important paralog of this gene is VAT1.

UniProtKB/Swiss-Prot Summary for MECR Gene

  • Catalyzes the NADPH-dependent reduction of trans-2-enoyl thioesters in mitochondrial fatty acid synthesis (fatty acid synthesis type II). Fatty acid chain elongation in mitochondria uses acyl carrier protein (ACP) as an acyl group carrier, but the enzyme accepts both ACP and CoA thioesters as substrates in vitro. Has a preference for short and medium chain substrates, including trans-2-hexenoyl-CoA (C6), trans-2-decenoyl-CoA (C10), and trans-2-hexadecenoyl-CoA (C16).

Gene Wiki entry for MECR Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MECR Gene

Genomics for MECR Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MECR Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MECR on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MECR

Top Transcription factor binding sites by QIAGEN in the MECR gene promoter:
  • AhR
  • Arnt
  • NF-1
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for MECR Gene

Genomic Locations for MECR Gene
chr1:29,192,657-29,230,948
(GRCh38/hg38)
Size:
38,292 bases
Orientation:
Minus strand
chr1:29,519,385-29,557,454
(GRCh37/hg19)
Size:
38,070 bases
Orientation:
Minus strand

Genomic View for MECR Gene

Genes around MECR on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MECR Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MECR Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MECR Gene

Proteins for MECR Gene

  • Protein details for MECR Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BV79-MECR_HUMAN
    Recommended name:
    Enoyl-[acyl-carrier-protein] reductase, mitochondrial
    Protein Accession:
    Q9BV79
    Secondary Accessions:
    • B3KT72
    • Q5SYU0
    • Q5SYU1
    • Q5SYU2
    • Q6IBU9
    • Q9Y373

    Protein attributes for MECR Gene

    Size:
    373 amino acids
    Molecular mass:
    40462 Da
    Quaternary structure:
    • Homodimer (PubMed:12654921, PubMed:18479707). Isoform 2 interacts with PPARA in the nucleus and increases its activity (By similarity).
    SequenceCaution:
    • Sequence=AAD34058.1; Type=Frameshift; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MECR Gene

    Alternative splice isoforms for MECR Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MECR Gene

Selected DME Specific Peptides for MECR Gene

Q9BV79:
  • GLGTWRTEAVF
  • SAATLGVNPCTAYRML
  • PAVGGNE
  • PINPSDIN

Post-translational modifications for MECR Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Abcam antibodies for MECR
  • Boster Bio Antibodies for MECR

Domains & Families for MECR Gene

Gene Families for MECR Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for MECR Gene

InterPro:
Blocks:
  • Alcohol dehydrogenase GroES-like
ProtoNet:

Suggested Antigen Peptide Sequences for MECR Gene

GenScript: Design optimal peptide antigens:
  • Nuclear receptor-binding factor 1 (MECR_HUMAN)
  • Mitochondrial trans-2-enoyl-CoA reductase (Q5SYU3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BV79

UniProtKB/Swiss-Prot:

MECR_HUMAN :
  • Belongs to the zinc-containing alcohol dehydrogenase family. Quinone oxidoreductase subfamily.
Family:
  • Belongs to the zinc-containing alcohol dehydrogenase family. Quinone oxidoreductase subfamily.
genes like me logo Genes that share domains with MECR: view

Function for MECR Gene

Molecular function for MECR Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the NADPH-dependent reduction of trans-2-enoyl thioesters in mitochondrial fatty acid synthesis (fatty acid synthesis type II). Fatty acid chain elongation in mitochondria uses acyl carrier protein (ACP) as an acyl group carrier, but the enzyme accepts both ACP and CoA thioesters as substrates in vitro. Has a preference for short and medium chain substrates, including trans-2-hexenoyl-CoA (C6), trans-2-decenoyl-CoA (C10), and trans-2-hexadecenoyl-CoA (C16).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 2,3-saturated acyl-[ACP] + NADP(+) = a (2E)-enoyl-[ACP] + H(+) + NADPH; Xref=Rhea:RHEA:22564, Rhea:RHEA-COMP:9925, Rhea:RHEA-COMP:9926, ChEBI:CHEBI:15378, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349, ChEBI:CHEBI:78784, ChEBI:CHEBI:78785; EC=1.3.1.104; Evidence={ECO:0000305|PubMed:12654921, ECO:0000305|PubMed:18479707};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=37 uM for trans-2-hexenoyl-CoA {ECO:0000269|PubMed:12654921, ECO:0000269|PubMed:18479707}; KM=7.1 uM for trans-2-decenoyl-CoA {ECO:0000269|PubMed:12654921, ECO:0000269|PubMed:18479707}; KM=3.6 uM for trans-dodec-2-enoyl-CoA {ECO:0000269|PubMed:12654921, ECO:0000269|PubMed:18479707}; KM=10.4 uM for trans-dec-2-enoyl-CoA {ECO:0000269|PubMed:12654921, ECO:0000269|PubMed:18479707}; KM=10.2 uM for trans-oct-2-enoyl-CoA {ECO:0000269|PubMed:12654921, ECO:0000269|PubMed:18479707}; KM=4.3 uM for trans-tetradec-2-enoyl-CoA {ECO:0000269|PubMed:12654921, ECO:0000269|PubMed:18479707}; KM=6.6 uM for trans-hexadec-2-enoyl-CoA {ECO:0000269|PubMed:12654921, ECO:0000269|PubMed:18479707}; KM=63.5 uM for trans-hex-2-enoyl-CoA {ECO:0000269|PubMed:12654921, ECO:0000269|PubMed:18479707};

Enzyme Numbers (IUBMB) for MECR Gene

Phenotypes From GWAS Catalog for MECR Gene

Gene Ontology (GO) - Molecular Function for MECR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016491 oxidoreductase activity IEA --
GO:0019166 trans-2-enoyl-CoA reductase (NADPH) activity IBA,IDA 12654921
genes like me logo Genes that share ontologies with MECR: view
genes like me logo Genes that share phenotypes with MECR: view

Human Phenotype Ontology for MECR Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MECR Gene

MGI Knock Outs for MECR:
  • Mecr Mecr<tm1a(EUCOMM)Wtsi>
  • Mecr Mecr<tm1d(EUCOMM)Wtsi>

Animal Model Products

  • Taconic Biosciences Mouse Models for MECR

CRISPR Products

miRNA for MECR Gene

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MECR

No data available for Transcription Factor Targets and HOMER Transcription for MECR Gene

Localization for MECR Gene

Subcellular locations from UniProtKB/Swiss-Prot for MECR Gene

[Isoform 1]: Mitochondrion.
[Isoform 2]: Cytoplasm. Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MECR gene
Compartment Confidence
mitochondrion 5
nucleus 3
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MECR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IBA,IDA 12654921
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with MECR: view

Pathways & Interactions for MECR Gene

genes like me logo Genes that share pathways with MECR: view

Pathways by source for MECR Gene

1 BioSystems pathway for MECR Gene

Gene Ontology (GO) - Biological Process for MECR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006631 fatty acid metabolic process IBA,IMP 27817865
GO:0006633 fatty acid biosynthetic process IEA --
GO:0006635 fatty acid beta-oxidation TAS --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with MECR: view

No data available for SIGNOR curated interactions for MECR Gene

Drugs & Compounds for MECR Gene

(9) Drugs for MECR Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Isopropyl alcohol Approved, Investigational Pharma 0
Propyl alcohol Approved, Experimental Pharma 0
1-Butanol Experimental Pharma 0
Hexanoyl-CoA Experimental Pharma 0
myristoyl-coa Experimental Pharma 0

(35) Additional Compounds for MECR Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(2E)-Decenoyl-CoA
  • (e)-S-2-Decenoate
  • (e)-S-2-Decenoate CoA
  • (e)-S-2-Decenoate coenzyme A
  • (e)-S-2-Decenoic acid
  • 2-trans-Decenoyl-CoA
10018-95-8
(2E)-Dodecenoyl-CoA
1066-12-2
(2E)-Hexadecenoyl-CoA
  • (e)-C16:1 N-14-CoA
  • (e)-Hexadec-2-enoyl-CoA tetraanion
  • (e)-Hexadec-2-enoyl-coenzyme A tetraanion
  • (e)-Hexadec-2-enoyl-coenzyme A(4-)
  • trans-2-Hexadecenoyl-CoA(4-)
4460-95-1
(2E)-Octenoyl-CoA
  • (e)-S-2-Octenoate
  • (e)-S-2-Octenoate CoA
  • (e)-S-2-Octenoate coenzyme A
  • (e)-S-2-Octenoic acid
  • 2,3-trans-Octenoyl coenzyme A
10018-94-7
(2E)-Tetradecenoyl-CoA
  • (2E)-Tetradecenoyl-coenzyme A
  • trans-Tetra-dec-2-enoyl-CoA
  • trans-Tetra-dec-2-enoyl-coa.
  • trans-Tetra-dec-2-enoyl-coenzyme A
  • trans-Tetra-dec-2-enoyl-coenzyme A.
38795-33-4
genes like me logo Genes that share compounds with MECR: view

Transcripts for MECR Gene

mRNA/cDNA for MECR Gene

9 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
18 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MECR

Alternative Splicing Database (ASD) splice patterns (SP) for MECR Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c · 5d ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b · 8c ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^
SP1: - - - - - - - - - - - -
SP2: - - - - - - - - - - -
SP3: - - - - - - - - - -
SP4: - - - - - - -
SP5: - - - - - - - - - - - - -
SP6: - - - - - - -
SP7:
SP8: - - - - - - - -
SP9: - - - - - - - - -
SP10: - - - - - - - -
SP11: - - - - -
SP12: - - - -
SP13: - - - - - - - - - -
SP14: - - -
SP15: - - - -
SP16:

ExUns: 14 ^ 15a · 15b ^ 16a · 16b · 16c
SP1: -
SP2: -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:

Relevant External Links for MECR Gene

GeneLoc Exon Structure for
MECR

Expression for MECR Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MECR Gene

Protein differential expression in normal tissues from HIPED for MECR Gene

This gene is overexpressed in Nasopharynx (8.2), Skin (6.4), and Heart (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MECR Gene



Protein tissue co-expression partners for MECR Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MECR

SOURCE GeneReport for Unigene cluster for MECR Gene:

Hs.183646

mRNA Expression by UniProt/SwissProt for MECR Gene:

Q9BV79-MECR_HUMAN
Tissue specificity: Highly expressed in skeletal and heart muscle. Expressed at lower level in placenta, liver, kidney and pancreas. Weakly or not expressed in lung.

Evidence on tissue expression from TISSUES for MECR Gene

  • Nervous system(4.7)
  • Liver(4.5)
  • Muscle(2.3)
  • Heart(2.3)
  • Kidney(2.2)
genes like me logo Genes that share expression patterns with MECR: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for MECR Gene

Orthologs for MECR Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MECR Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MECR 30 31
  • 99.82 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia MECR 30 31
  • 88.89 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MECR 30 31
  • 87.22 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Mecr 30
  • 83.02 (n)
Mouse
(Mus musculus)
Mammalia Mecr 30 17 31
  • 82.66 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia MECR 31
  • 72 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 62 (a)
OneToMany
-- 31
  • 54 (a)
OneToMany
Chicken
(Gallus gallus)
Aves MECR 30 31
  • 67.34 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MECR 31
  • 64 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia mecr 30
  • 63.94 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.11527 30
Zebrafish
(Danio rerio)
Actinopterygii mecr 30 31
  • 64.84 (n)
OneToOne
Dr.17583 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG16935 30 31
  • 55.93 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011834 30
  • 55.59 (n)
Worm
(Caenorhabditis elegans)
Secernentea mecr-1 30 31
  • 50.66 (n)
OneToMany
Y48A6B.9 31
  • 40 (a)
OneToMany
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AEL081W 30
  • 49.04 (n)
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F24552g 30
  • 47.51 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ETR1 30 31 33
  • 44.33 (n)
OneToOne
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT3G45770 30
  • 53.09 (n)
Rice
(Oryza sativa)
Liliopsida Os11g0102500 30
  • 53.57 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU00655 30
  • 52.02 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes etr1 30
  • 50.31 (n)
Species where no ortholog for MECR was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for MECR Gene

ENSEMBL:
Gene Tree for MECR (if available)
TreeFam:
Gene Tree for MECR (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MECR: view image

Paralogs for MECR Gene

genes like me logo Genes that share paralogs with MECR: view

Variants for MECR Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MECR Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
716800 Likely Benign: not provided 29,206,777(-) C/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
718392 Benign/Likely Benign: not provided 29,202,029(-) G/A NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
720895 Benign: not provided 29,200,573(-) C/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
727436 Likely Benign: not provided 29,216,622(-) G/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
738522 Likely Benign: not provided 29,206,892(-) G/A NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for MECR Gene

Structural Variations from Database of Genomic Variants (DGV) for MECR Gene

Variant ID Type Subtype PubMed ID
nsv1113097 CNV deletion 24896259

Variation tolerance for MECR Gene

Residual Variation Intolerance Score: 56.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.07; 37.97% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MECR Gene

Human Gene Mutation Database (HGMD)
MECR
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MECR

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MECR Gene

Disorders for MECR Gene

MalaCards: The human disease database

(7) MalaCards diseases for MECR Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities
  • dytoabg
3-methylglutaconic aciduria, type iii
  • mgca3
mecr-related neurologic disorder
  • dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities
dystonia
  • dystonic disease
salivary gland carcinoma
  • salivary gland cancer
- elite association - COSMIC cancer census association via MalaCards
Search MECR in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MECR_HUMAN
  • Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities (DYTOABG) [MIM:617282]: An autosomal recessive neurologic disorder characterized by childhood-onset dystonia, basal ganglia degeneration and optic atrophy with decreased visual acuity. Dystonia is defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYTOABG severity is variable, and some patients lose independent ambulation. {ECO:0000269 PubMed:27817865}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for MECR

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with MECR: view

No data available for Genatlas for MECR Gene

Publications for MECR Gene

  1. Characterization of 2-enoyl thioester reductase from mammals. An ortholog of YBR026p/MRF1'p of the yeast mitochondrial fatty acid synthesis type II. (PMID: 12654921) Miinalainen IJ … Hiltunen JK (The Journal of biological chemistry 2003) 2 3 4 23
  2. Structural enzymological studies of 2-enoyl thioester reductase of the human mitochondrial FAS II pathway: new insights into its substrate recognition properties. (PMID: 18479707) Chen ZJ … Haapalainen AM (Journal of molecular biology 2008) 3 4 23
  3. MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder. (PMID: 27817865) Heimer G … Hayflick SJ (American journal of human genetics 2016) 3 4
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41
  5. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4

Products for MECR Gene

Sources for MECR Gene