Gene
MRE11
MRE11 double strand break repair nuclease
- HGNC 7230(opens in a new tab)
- Ensembl gene ENSG00000020922(opens in a new tab)
- NCBI Gene 4361(opens in a new tab)
Summary
- Cytogenetic location
- 11q21
- Coordinates
- Chromosome 11: 94,415,570–94,493,844 (GRCh38)
- Exons
- 20 exons across 78.3 kb
- Protein
- 708 amino acids
- Inheritance
- Autosomal recessive
- Also known as
- ATLD
- Previous symbols
- MRE11A
- MANE Select transcript
- ENST00000323929.8NM_005591.4
- 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.
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DNA Repair Disease
- Autosomal recessive
A disease that has its basis in the disruption of DNA repair.
- 4 GenCC submitters rate it definitive or strong
Inheritance
- Autosomal recessive
- It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.
How MRE11 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 6.8 kb of the gene's 78.3 kb; 2,127 of those bases code for the protein.
How a genome test reads MRE11
130
positions in MRE11 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 78.3 kb of MRE11, introns included, not only the 6.8 kb of exons.
Traits linked to MRE11
The Human Phenotype Ontology lists these as features of the rare conditions MRE11 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Ataxia
- Difficulty articulating speech
- Dystonia
- Unsteady walk
- Cerebellar vermis hypoplasia
- Chorea
- Choreoathetosis
- Degeneration of cerebellum
Show 13 more traits
- Delayed speech and language development
- Dilated fourth ventricle
- Diminished deep tendon reflex
- Enlarged interhemispheric fissure
- Inability to coordinate movements when walking
- Intention tremor
- Lack of coordination of movement
- Orofacial dyskinesia
- Difficulty performing quick and alternating movements
- Hyperactive deep tendon reflexes
- Jerking
- Nerve damage causing decreased feeling and movement
- Decreased reflex response
Abnormality of the eye
- Oculomotor apraxia
- Horizontal jerk nystagmus
- Slow eye movements
- Abnormality of ocular smooth pursuit
- Gaze-evoked nystagmus
- Uncoordinated eye movement
- Vertical nystagmus
- Hypometric saccades
Show 1 more trait
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.). MRE11 gene: MRE11 double strand break repair nuclease. Retrieved 16 October 2026, from https://dantelabs.com/genes/mre11
Dante Labs. MRE11 gene: MRE11 double strand break repair nuclease [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/mre11
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