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TPK1 - thiamin pyrophosphokinase 1
- Synonym(s) : HTPK1, Placental protein 20, placental protein 20, PP20, Thiamine diphosphokinase, thiamine diphosphokinase, Thiamine kinase, thiamine kinase, Thiamine pyrophosphokinase 1, thiamine pyrophosphokinase 1
- Previous symbols and names : _
- Type : gene with protein product
- Chromosomal location : 7q35
- OMIM: 606370
- HGNC: 17358
- UniProtKB: Q9H3S4
- Genatlas: TPK1
- GenCC: TPK1
- Ensembl: ENSG00000196511
- IUPHAR-DB: -
- Reactome: Q9H3S4
- LOVD: TPK1
Diseases list
- Disease-causing germline mutation(s) (loss of function) in Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
ORPHA:293955 
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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