Recombinant Human Thiamin pyrophosphokinase 1 (TPK1)

Uniprot Id

Q9H3S4

Target Species

Human

Target Name

TPK1

Target Full Name

Thiamine pyrophosphokinase 1

Target Function

Catalyzes the phosphorylation of thiamine to thiamine pyrophosphate. Can also catalyze the phosphorylation of pyrithiamine to pyrithiamine pyrophosphate.

Target Involvement

Thiamine metabolism dysfunction syndrome 5, episodic encephalopathy type (THMD5)

Target Protein Families

Thiamine pyrophosphokinase family

Target Tissue Specificity

Detected in heart, kidney, testis, small intestine and peripheral blood leukocytes, and at very low levels in a variety of tissues.

Target Research Area

others

Target Synonyms

hTPK1; Placental protein 20; PP20; Thiamin pyrophosphokinase 1; Thiamine diphosphokinase; Thiamine kinase; Thiamine pyrophosphokinase 1; THMD5; TPK1; TPK1_HUMAN

Target Background

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.