Gene
PTPMT1
protein tyrosine phosphatase mitochondrial 1
- HGNC 26965↗(opens in a new tab)
- Ensembl gene ENSG00000110536↗(opens in a new tab)
- NCBI Gene 114971↗(opens in a new tab)
Summary
- Cytogenetic location
- 11p11.2
- Coordinates
- Chromosome 11: 47,565,599–47,573,461 (GRCh38)
- Exons
- 4 exons across 7.9 kb
- Protein
- 201 amino acids
- Also known as
- PLIP, DUSP23, MOSP
- MANE Select transcript
- ENST00000326674.10NM_175732.3
- 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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How PTPMT1 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- 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 7.9 kb; 606 of those bases code for the protein.
Traits linked to PTPMT1
The Human Phenotype Ontology lists these as features of the rare conditions PTPMT1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Ataxia
- Bilateral tonic-clonic seizure with generalized onset
- Delayed speech and language development
- Encephalopathy
- Generalized-onset seizure
- Inability to walk
- Motor delay
- Poor eye contact
Show 14 more traits
- Tetraparesis
- Typical absence seizure
- Bulbar signs
- Mild global developmental delay
- Degeneration of cerebellum
- Lateral ventricle dilatation
- Loss of developmental milestones
- Thin corpus callosum
- CNS hypomyelination
- Decrease in size of the outer layer of the brain due to loss of brain cells
- Deep cerebral white matter hyperintensities
- Hypoplasia of the pons
- Periventricular white matter hyperintensities
- Severe global developmental delay
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.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
Cite this page
Dante Labs. (n.d.). PTPMT1 gene: protein tyrosine phosphatase mitochondrial 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/ptpmt1
Dante Labs. PTPMT1 gene: protein tyrosine phosphatase mitochondrial 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/ptpmt1
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