Thiamin Pyrophosphokinase 1 (TPK1) ELISA Kit for Human

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 autosomal 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 2.7.6.2; Kinase, other

Chromosomal Location of Human Ortholog: 7q34-q35

Cellular Component: cytosol

Molecular Function: thiamin binding; thiamin diphosphokinase activity; kinase activity; ATP binding

Biological Process: thiamin metabolic process; vitamin metabolic process; thiamin and derivative metabolic process; phosphorylation; thiamin diphosphate biosynthetic process; water-soluble vitamin metabolic process

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