Gene Symbol | TPK1 |
Entrez Gene ID | 27010 |
Full Name | thiamin pyrophosphokinase 1 |
Synonyms | HTPK1,PP20,THMD5 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458 (3) |