Identity
HGNC
LOCATION
1p35.3
LOCUSID
ALIAS
CGI-63,DYTOABG,ETR1,FASN2B,NRBF1
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 51102
MIM: 608205
HGNC: 19691
Ensembl: ENSG00000116353
Variants:
dbSNP: 51102
ClinVar: 51102
TCGA: ENSG00000116353
COSMIC: MECR
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000116353 | ENST00000263702 | Q9BV79 |
| ENSG00000116353 | ENST00000373791 | Q9BV79 |
| ENSG00000116353 | ENST00000463412 | H3BM30 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37734847 | 2023 | Recessive MECR pathogenic variants cause an LHON-like optic neuropathy. | 3 |
| 37734847 | 2023 | Recessive MECR pathogenic variants cause an LHON-like optic neuropathy. | 3 |
| 36542656 | 2022 | Alternative splicing liberates a cryptic cytoplasmic isoform of mitochondrial MECR that antagonizes influenza virus. | 5 |
| 36542656 | 2022 | Alternative splicing liberates a cryptic cytoplasmic isoform of mitochondrial MECR that antagonizes influenza virus. | 5 |
| 33401012 | 2021 | Whole exome sequencing identifies a novel homozygous MECR mutation in a Chinese patient with childhood-onset dystonia and basal ganglia abnormalities, without optic atrophy. | 5 |
| 33401012 | 2021 | Whole exome sequencing identifies a novel homozygous MECR mutation in a Chinese patient with childhood-onset dystonia and basal ganglia abnormalities, without optic atrophy. | 5 |
| 27817865 | 2016 | MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder. | 37 |
| 27845578 | 2016 | The Well-Known Gene HHIP and Novel Gene MECR Are Implicated in Small Airway Obstruction. | 5 |
| 27817865 | 2016 | MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder. | 37 |
| 27845578 | 2016 | The Well-Known Gene HHIP and Novel Gene MECR Are Implicated in Small Airway Obstruction. | 5 |
| 24161390 | 2013 | The mitochondrial fatty acid synthesis (mtFASII) pathway is capable of mediating nuclear-mitochondrial cross talk through the PPAR system of transcriptional activation. | 12 |
| 24161390 | 2013 | The mitochondrial fatty acid synthesis (mtFASII) pathway is capable of mediating nuclear-mitochondrial cross talk through the PPAR system of transcriptional activation. | 12 |
| 20877624 | 2010 | Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. | 20 |
| 20877624 | 2010 | Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. | 20 |
| 18479707 | 2008 | Structural enzymological studies of 2-enoyl thioester reductase of the human mitochondrial FAS II pathway: new insights into its substrate recognition properties. | 16 |
Citation
Dessen P
MECR (mitochondrial trans-2-enoyl-CoA reductase)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/68868/mecr-(mitochondrial-trans-2-enoyl-coa-reductase)
