TPI1 Chromosome 12
Triosephosphate isomerase 1
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What This Gene Does
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]
Associated Conditions (2)
Triosephosphate isomerase deficiency
TPI1-related disorder
Key Variants
RS138131191
Conflicting classifications of pathogenicity
Triosephosphate isomerase deficiency, Triosephosphate isomerase deficiency
Health Risk
RS149190846
Conflicting classifications of pathogenicity
Triosephosphate isomerase deficiency, Triosephosphate isomerase deficiency
Health Risk
RS1800202
Conflicting classifications of pathogenicity
Triosephosphate isomerase deficiency, Triosephosphate isomerase deficiency
Health Risk
RS181882616
Conflicting classifications of pathogenicity
Triosephosphate isomerase deficiency, Triosephosphate isomerase deficiency
Health Risk
RS188138723
Conflicting classifications of pathogenicity
Triosephosphate isomerase deficiency, Triosephosphate isomerase deficiency
Health Risk
RS369241009
Conflicting classifications of pathogenicity
Triosephosphate isomerase deficiency, Triosephosphate isomerase deficiency
Health Risk
RS370863694
Conflicting classifications of pathogenicity
Triosephosphate isomerase deficiency, TPI1-related disorder, Triosephosphate isomerase deficiency
Health Risk
RS781911173
Conflicting classifications of pathogenicity
Triosephosphate isomerase deficiency, Triosephosphate isomerase deficiency
Health Risk
RS781949460
Conflicting classifications of pathogenicity
Triosephosphate isomerase deficiency, Triosephosphate isomerase deficiency
Health Risk
RS782153322
Conflicting classifications of pathogenicity
Triosephosphate isomerase deficiency, Triosephosphate isomerase deficiency
Health Risk
RS782359362
Conflicting classifications of pathogenicity
Triosephosphate isomerase deficiency, Triosephosphate isomerase deficiency
Health Risk
RS2138094606
Likely pathogenic
Triosephosphate isomerase deficiency, Triosephosphate isomerase deficiency
Health Risk
All Variants (20)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138131191 | Health Risk | Conflicting classifications of pathogenicity | Triosephosphate isomerase deficiency, Triosephosphate isomerase deficiency |
| RS149190846 | Health Risk | Conflicting classifications of pathogenicity | Triosephosphate isomerase deficiency, Triosephosphate isomerase deficiency |
| RS1800202 | Health Risk | Conflicting classifications of pathogenicity | Triosephosphate isomerase deficiency, Triosephosphate isomerase deficiency |
| RS181882616 | Health Risk | Conflicting classifications of pathogenicity | Triosephosphate isomerase deficiency, Triosephosphate isomerase deficiency |
| RS188138723 | Health Risk | Conflicting classifications of pathogenicity | Triosephosphate isomerase deficiency, Triosephosphate isomerase deficiency |
| RS369241009 | Health Risk | Conflicting classifications of pathogenicity | Triosephosphate isomerase deficiency, Triosephosphate isomerase deficiency |
| RS370863694 | Health Risk | Conflicting classifications of pathogenicity | Triosephosphate isomerase deficiency, TPI1-related disorder, Triosephosphate isomerase deficiency |
| RS781911173 | Health Risk | Conflicting classifications of pathogenicity | Triosephosphate isomerase deficiency, Triosephosphate isomerase deficiency |
| RS781949460 | Health Risk | Conflicting classifications of pathogenicity | Triosephosphate isomerase deficiency, Triosephosphate isomerase deficiency |
| RS782153322 | Health Risk | Conflicting classifications of pathogenicity | Triosephosphate isomerase deficiency, Triosephosphate isomerase deficiency |
| RS782359362 | Health Risk | Conflicting classifications of pathogenicity | Triosephosphate isomerase deficiency, Triosephosphate isomerase deficiency |
| RS2138094606 | Health Risk | Likely pathogenic | Triosephosphate isomerase deficiency, Triosephosphate isomerase deficiency |
| RS2542450222 | Health Risk | Likely pathogenic | — |
| RS587777441 | Health Risk | Likely pathogenic | Triosephosphate isomerase deficiency, Triosephosphate isomerase deficiency, Triosephosphate isomerase deficiency |
| RS121964848 | Health Risk | Pathogenic | Triosephosphate isomerase deficiency, Triosephosphate isomerase deficiency |
| RS121964849 | Health Risk | Pathogenic | Triosephosphate isomerase deficiency, Triosephosphate isomerase deficiency |
| RS121964850 | Health Risk | Pathogenic | Triosephosphate isomerase deficiency, Triosephosphate isomerase deficiency |
| RS2542450530 | Health Risk | Pathogenic | — |
| RS587777440 | Health Risk | Pathogenic | Triosephosphate isomerase deficiency, Triosephosphate isomerase deficiency |
| RS121964845 | Health Risk | Pathogenic/Likely pathogenic | Triosephosphate isomerase deficiency, Triosephosphate isomerase deficiency |