TKT Chromosome 3
Transketolase
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What This Gene Does
This gene encodes a thiamine-dependent enzyme which plays a role in the channeling of excess sugar phosphates to glycolysis in the pentose phosphate pathway. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Apr 2012]
Associated Conditions (2)
TKT-related disorder
Transketolase deficiency
Key Variants
RS138820989
Conflicting classifications of pathogenicity
TKT-related disorder, Transketolase deficiency, TKT-related disorder
Health Risk
RS17052920
Conflicting classifications of pathogenicity
Transketolase deficiency, TKT-related disorder, Transketolase deficiency
Health Risk
RS2471185030
Likely pathogenic
Transketolase deficiency, Transketolase deficiency
Health Risk
RS782092363
Pathogenic
Transketolase deficiency, Transketolase deficiency
Health Risk
RS868953318
Pathogenic
Transketolase deficiency, Transketolase deficiency
Health Risk
RS781905246
Pathogenic/Likely pathogenic
Transketolase deficiency, Transketolase deficiency
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138820989 | Health Risk | Conflicting classifications of pathogenicity | TKT-related disorder, Transketolase deficiency, TKT-related disorder |
| RS17052920 | Health Risk | Conflicting classifications of pathogenicity | Transketolase deficiency, TKT-related disorder, Transketolase deficiency |
| RS2471185030 | Health Risk | Likely pathogenic | Transketolase deficiency, Transketolase deficiency |
| RS782092363 | Health Risk | Pathogenic | Transketolase deficiency, Transketolase deficiency |
| RS868953318 | Health Risk | Pathogenic | Transketolase deficiency, Transketolase deficiency |
| RS781905246 | Health Risk | Pathogenic/Likely pathogenic | Transketolase deficiency, Transketolase deficiency |