Gene
TPI1
triosephosphate isomerase 1
- HGNC 12009(opens in a new tab)
- Ensembl gene ENSG00000111669(opens in a new tab)
- NCBI Gene 7167(opens in a new tab)
Summary
- Cytogenetic location
- 12p13.31
- Coordinates
- Chromosome 12: 6,867,531–6,870,948 (GRCh38)
- Exons
- 7 exons across 3.4 kb
- Protein
- 249 amino acids
- Inheritance
- Autosomal recessive
- MANE Select transcript
- ENST00000396705.10NM_000365.6
- 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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Pyruvate Kinase Deficiency and Other Red Cell Enzyme Disorders
- Triosephosphate Isomerase DeficiencyAutosomal recessive
A recessive condition caused by changes in TPI1, combining haemolytic anaemia with progressive nerve and muscle problems that begin in early childhood, and frequent infections.
- 2 GenCC submitters rate it definitive or strong
What knowing changes
A diagnosis supports supportive care and informs family counselling.
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 TPI1 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 1.4 kb of the gene's 3.4 kb; 750 of those bases code for the protein.
How a genome test reads TPI1
3
positions in TPI1 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 3.4 kb of TPI1, introns included, not only the 1.4 kb of exons.
Traits linked to TPI1
The Human Phenotype Ontology lists these as features of the rare conditions TPI1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the musculoskeletal system
- Low muscle tone
- Muscle degeneration
- Diaphragmatic paralysis
- Decreased lung function due to weak breathing muscles
- Generalized decreased muscle tone
- Hunched back
- Involuntary muscle stiffness, contraction, or spasm
- Muscle tissue disease
Show 2 more traits
Abnormality of the nervous system
- Central nervous system degeneration
- Degeneration of cerebrum
- Decreased nerve conduction velocity
- Decreased reflex response
- Dystonia
- Global developmental delay
- Peripheral neuropathy
- Tremor
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.). TPI1 gene: triosephosphate isomerase 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/tpi1
Dante Labs. TPI1 gene: triosephosphate isomerase 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/tpi1
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