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Thiamin pyrophosphokinase

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

Below are the list of possible Thiamin pyrophosphokinase products. If you cannot find the target and/or product is not available in our catalog, please click here to contact us and request the product or submit your request for custom elisa kit production, custom recombinant protein production or custom antibody production. Custom ELISA Kits, Recombinant Proteins and Antibodies can be designed, manufactured and produced according to the researcher's specifications.

Thiamin pyrophosphokinase 1

 Thiamin pyrophosphokinase 1 ELISA Kit
 Thiamin pyrophosphokinase 1 Recombinant
 Thiamin pyrophosphokinase 1 Antibody
Also known as Thiamin pyrophosphokinase 1 (hTPK1) (Placental protein 20) (PP20) (Thiamine pyrophosphokinase 1).
TPK1: Catalyzes the phosphorylation of thiamine to thiamine pyrophosphate. Can also catalyze the phosphorylation of pyrithiamine to pyrithiamine pyrophosphate. Defects in TPK1 are the cause of thiamine metabolism dysfunction syndrome type 5, episodic encephalopathy type (THMD5). An au
tosomal recessive metabolic disorder due to an inborn error of thiamine metabolism. The phenotype is highly variable, but in general, affected individuals have onset in early childhood of acute encephalopathic episodes associated with increased serum and CSF lactate. These episodes result in progressive neurologic dysfunction manifest as gait disturbances, ataxia, dystonia, and spasticity, which in some cases may result in loss of ability to walk. Cognitive function is usually preserved, although mildly delayed development has been reported. These episodes are usually associated with infection and metabolic decompensation. Some patients may have recovery of some neurologic deficits. Belongs to the thiamine pyrophosphokinase family.

Protein type: Cofactor and Vitamin Metabolism - thiamine; EC; Kinase, other

Chromosomal Location of Human Ortholog: 7q34-q35

Cellular Component: cytosol

Molecular Function: thiamin diphosphokinase activity

Biological Process: thiamin and derivative metabolic process; thiamin diphosphate biosynthetic process

Disease: Thiamine Metabolism Dysfunction Syndrome 5 (episodic Encephalopathy Type)
 TPK1 Recombinant
 TPK1 Antibody
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