TPK1 Chromosome 7
Thiamin pyrophosphokinase 1
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What This Gene Does
The protein encoded by this gene functions as a homodimer and catalyzes the conversion of thiamine to thiamine pyrophosphate, a cofactor for some enzymes of the glycolytic and energy production pathways. Defects in this gene are a cause of thiamine metabolism dysfunction syndrome-5. [provided by RefSeq, Apr 2017]
Associated Conditions (3)
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
Inborn genetic diseases
Leigh syndrome
Key Variants
RS371271054
Conflicting classifications of pathogenicity
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency, Inborn genetic diseases, Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
Health Risk
RS387906936
Conflicting classifications of pathogenicity
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency, Inborn genetic diseases, Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
Health Risk
RS547285921
Conflicting classifications of pathogenicity
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency, Inborn genetic diseases, Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
Health Risk
RS747262651
Conflicting classifications of pathogenicity
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency, Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
Health Risk
RS760881424
Conflicting classifications of pathogenicity
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency, Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
Health Risk
RS773722179
Conflicting classifications of pathogenicity
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency, Inborn genetic diseases, Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
Health Risk
RS1203658633
Likely pathogenic
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency, Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
Health Risk
RS1554523224
Likely pathogenic
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency, Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
Health Risk
RS1563989427
Likely pathogenic
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency, Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
Health Risk
RS1588141902
Likely pathogenic
Health Risk
RS2082415487
Likely pathogenic
Health Risk
RS2150827249
Likely pathogenic
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency, Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
Health Risk
All Variants (31)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS371271054 | Health Risk | Conflicting classifications of pathogenicity | Childhood encephalopathy due to thiamine pyrophosphokinase deficiency, Inborn genetic diseases, Childhood encephalopathy due to thiamine pyrophosphokinase deficiency |
| RS387906936 | Health Risk | Conflicting classifications of pathogenicity | Childhood encephalopathy due to thiamine pyrophosphokinase deficiency, Inborn genetic diseases, Childhood encephalopathy due to thiamine pyrophosphokinase deficiency |
| RS547285921 | Health Risk | Conflicting classifications of pathogenicity | Childhood encephalopathy due to thiamine pyrophosphokinase deficiency, Inborn genetic diseases, Childhood encephalopathy due to thiamine pyrophosphokinase deficiency |
| RS747262651 | Health Risk | Conflicting classifications of pathogenicity | Childhood encephalopathy due to thiamine pyrophosphokinase deficiency, Childhood encephalopathy due to thiamine pyrophosphokinase deficiency |
| RS760881424 | Health Risk | Conflicting classifications of pathogenicity | Childhood encephalopathy due to thiamine pyrophosphokinase deficiency, Childhood encephalopathy due to thiamine pyrophosphokinase deficiency |
| RS773722179 | Health Risk | Conflicting classifications of pathogenicity | Childhood encephalopathy due to thiamine pyrophosphokinase deficiency, Inborn genetic diseases, Childhood encephalopathy due to thiamine pyrophosphokinase deficiency |
| RS1203658633 | Health Risk | Likely pathogenic | Childhood encephalopathy due to thiamine pyrophosphokinase deficiency, Childhood encephalopathy due to thiamine pyrophosphokinase deficiency |
| RS1554523224 | Health Risk | Likely pathogenic | Childhood encephalopathy due to thiamine pyrophosphokinase deficiency, Childhood encephalopathy due to thiamine pyrophosphokinase deficiency |
| RS1563989427 | Health Risk | Likely pathogenic | Childhood encephalopathy due to thiamine pyrophosphokinase deficiency, Childhood encephalopathy due to thiamine pyrophosphokinase deficiency |
| RS1588141902 | Health Risk | Likely pathogenic | — |
| RS2082415487 | Health Risk | Likely pathogenic | — |
| RS2150827249 | Health Risk | Likely pathogenic | Childhood encephalopathy due to thiamine pyrophosphokinase deficiency, Childhood encephalopathy due to thiamine pyrophosphokinase deficiency |
| RS2151035560 | Health Risk | Likely pathogenic | Childhood encephalopathy due to thiamine pyrophosphokinase deficiency, Childhood encephalopathy due to thiamine pyrophosphokinase deficiency |
| RS2548303507 | Health Risk | Likely pathogenic | Childhood encephalopathy due to thiamine pyrophosphokinase deficiency, Childhood encephalopathy due to thiamine pyrophosphokinase deficiency |
| RS751034120 | Health Risk | Likely pathogenic | Childhood encephalopathy due to thiamine pyrophosphokinase deficiency, Childhood encephalopathy due to thiamine pyrophosphokinase deficiency |
| RS1417315589 | Health Risk | Pathogenic | Childhood encephalopathy due to thiamine pyrophosphokinase deficiency, Childhood encephalopathy due to thiamine pyrophosphokinase deficiency |
| RS2069999514 | Health Risk | Pathogenic | Childhood encephalopathy due to thiamine pyrophosphokinase deficiency, Childhood encephalopathy due to thiamine pyrophosphokinase deficiency |
| RS2150697552 | Health Risk | Pathogenic | Childhood encephalopathy due to thiamine pyrophosphokinase deficiency, Childhood encephalopathy due to thiamine pyrophosphokinase deficiency |
| RS2150829457 | Health Risk | Pathogenic | Childhood encephalopathy due to thiamine pyrophosphokinase deficiency, Childhood encephalopathy due to thiamine pyrophosphokinase deficiency |
| RS2547520486 | Health Risk | Pathogenic | Childhood encephalopathy due to thiamine pyrophosphokinase deficiency, Childhood encephalopathy due to thiamine pyrophosphokinase deficiency |
| RS2548303949 | Health Risk | Pathogenic | Childhood encephalopathy due to thiamine pyrophosphokinase deficiency, Childhood encephalopathy due to thiamine pyrophosphokinase deficiency |
| RS375169579 | Health Risk | Pathogenic | Childhood encephalopathy due to thiamine pyrophosphokinase deficiency, Leigh syndrome, Childhood encephalopathy due to thiamine pyrophosphokinase deficiency |
| RS387906935 | Health Risk | Pathogenic | Childhood encephalopathy due to thiamine pyrophosphokinase deficiency, Childhood encephalopathy due to thiamine pyrophosphokinase deficiency |
| RS760398697 | Health Risk | Pathogenic | Childhood encephalopathy due to thiamine pyrophosphokinase deficiency, Childhood encephalopathy due to thiamine pyrophosphokinase deficiency |
| RS769525399 | Health Risk | Pathogenic | Childhood encephalopathy due to thiamine pyrophosphokinase deficiency, Childhood encephalopathy due to thiamine pyrophosphokinase deficiency |
| RS776874412 | Health Risk | Pathogenic | Childhood encephalopathy due to thiamine pyrophosphokinase deficiency, Childhood encephalopathy due to thiamine pyrophosphokinase deficiency |
| RS863224238 | Health Risk | Pathogenic | — |
| RS368458768 | Health Risk | Pathogenic/Likely pathogenic | Childhood encephalopathy due to thiamine pyrophosphokinase deficiency, Childhood encephalopathy due to thiamine pyrophosphokinase deficiency |
| RS747753388 | Health Risk | Pathogenic/Likely pathogenic | Childhood encephalopathy due to thiamine pyrophosphokinase deficiency, Childhood encephalopathy due to thiamine pyrophosphokinase deficiency |
| RS863224237 | Health Risk | Pathogenic/Likely pathogenic | Childhood encephalopathy due to thiamine pyrophosphokinase deficiency, Childhood encephalopathy due to thiamine pyrophosphokinase deficiency |
| RS970696642 | Health Risk | Pathogenic/Likely pathogenic | Childhood encephalopathy due to thiamine pyrophosphokinase deficiency, Childhood encephalopathy due to thiamine pyrophosphokinase deficiency |