TPK1 thiamin pyrophosphokinase 1

Gene ID: 27010, updated on 10-Oct-2024
Gene type: protein coding
Also known as: PP20; HTPK1; THMD5

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]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency MedGen: C3280866OMIM: 614458GeneReviews: Not available	See labs

Genomic context

Location:: 7q35

Sequence:: Chromosome: 7; NC_000007.14 (144451941..144836437, complement)

Total number of exons:: 26

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for TPK1 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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