TPK1 gene

thiamin pyrophosphokinase 1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a protein, that exists as a homodimer, which catalyzes the conversion of thiamine to thiamine pyrophosphate. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

From UniProt:

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

Covered on Genetics Home Reference:

From NCBI Gene:

  • Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)

From UniProt:

Thiamine metabolism dysfunction syndrome 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. [MIM:614458]

Cytogenetic Location: 7q34-q35, which is the long (q) arm of chromosome 7 between positions 34 and 35

Molecular Location: base pairs 144,451,941 to 144,836,424 on chromosome 7 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 7q34-q35, which is the long (q) arm of chromosome 7 between positions 34 and 35
  • HTPK1
  • PP20
  • THMD5