TPI1

Chr 12

triosephosphate isomerase 1

Also known as: HEL-S-49, TIM, TPI, TPID

NCBI Gene: 7167 ENSG00000111669 UniProt: P60174

The protein functions as triosephosphate isomerase, catalyzing the interconversion between dihydroxyacetone phosphate and glyceraldehyde-3-phosphate in glycolysis and gluconeogenesis. Mutations cause triosephosphate isomerase deficiency, which presents as hemolytic anemia and follows autosomal recessive inheritance. This is a severe metabolic disorder that typically manifests in infancy with progressive neurological deterioration in addition to the hematologic features.

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes an enzyme, consisting of two identical proteins, which catalyzes the isomerization of glyceraldehydes 3-phosphate (G3P) and dihydroxy-acetone phosphate (DHAP) in glycolysis and gluconeogenesis. Mutations in this gene are associated with triosephosphate isomerase deficiency. Pseudogenes have been identified on chromosomes 1, 4, 6 and 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtTriosephosphate isomerase deficiency

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.73

LOEUF

Mechanism· predicted

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GeneReview available — TPI1

Authoritative clinical overview · Recommended first read