Gene
MECR
mitochondrial trans-2-enoyl-CoA reductase
- HGNC 19691(opens in a new tab)
- Ensembl gene ENSG00000116353(opens in a new tab)
- NCBI Gene 51102(opens in a new tab)
Summary
- Cytogenetic location
- 1p35.3
- Coordinates
- Chromosome 1: 29,192,657–29,230,934 (GRCh38)
- Exons
- 10 exons across 38.3 kb
- Protein
- 373 amino acids
- Also known as
- CGI-63, NRBF1, FASN2B, ETR1
- MANE Select transcript
- ENST00000263702.11NM_016011.5
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
Read MECR, and the rest of your genome, with one test.
From $449Free shipping · Results in 6–8 weeks
Get my Genome TestCurated reports relevant to this gene
Dystonia, Myotonia, Paroxysmal Dyskinesia
- Inherited Dystonia
Umbrella term covering inherited dystonias, including DYT-TOR1A early-onset generalized dystonia, DYT-THAP1, myoclonus-dystonia (SGCE) and KMT2B-related dystonia.
- 3 GenCC submitters rate it definitive or strong
Broader groupings
Leigh Syndrome
One of 69 genes linked to it
A progressive neurological disease defined by specific neuropathological features associating brainstem and basal ganglia lesions.
- ClinGen rates the link moderate
How MECR is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 2.5 kb of the gene's 38.3 kb; 1,122 of those bases code for the protein.
How a genome test reads MECR
8
positions in MECR where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 38.3 kb of MECR, introns included, not only the 2.5 kb of exons.
Traits linked to MECR
The Human Phenotype Ontology lists these as features of the rare conditions MECR can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Difficulty articulating speech
- Headache
- Dystonia
- Striatal T2 hyperintensity
- Abnormal craniofacial muscle tone
- Abnormal gait
- Disorder of involuntary muscle movements
- Limb dystonia
Show 17 more traits
- Motor delay
- Ataxia
- Axial dystonia
- Babinski sign
- Chorea
- Clumsiness
- Degeneration of cerebellum
- Degeneration of cerebrum
- Delayed motor skills
- Elevated brain lactate level by MRS
- Hemidystonia
- Increased reflexes
- Involuntary writhing movements in fingers, hands, toes, and feet
- Jerking
- Loss of ability to walk
- Paroxysmal dyskinesia
- Involuntary movements
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). MECR gene: mitochondrial trans-2-enoyl-CoA reductase. Retrieved 16 October 2026, from https://dantelabs.com/genes/mecr
Dante Labs. MECR gene: mitochondrial trans-2-enoyl-CoA reductase [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/mecr
One test. A lifetime of answers.
From $449Free shipping · Results in 6–8 weeks