Gene: TPK1

Alternate names for this Gene: HTPK1|PP20|THMD5

Gene 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.

Gene is located in Chromosome: 7

Location in Chromosome : 7q35

Description of this Gene: thiamin pyrophosphokinase 1

Type of Gene: protein-coding

rs13230714 in TPK1 gene and Breast Carcinoma PMID 29059683 2017 Association analysis identifies 65 new breast cancer risk loci.

rs2371549 in TPK1 gene and SERUM CHLORIDE ION TESTS PMID 23696881 2013 Imputation of variants from the 1000 Genomes Project modestly improves known associations and can identify low-frequency variant-phenotype associations undetected by HapMap based imputation.

rs2371549 in TPK1 gene and Serum chloride level result PMID 23696881 2013 Imputation of variants from the 1000 Genomes Project modestly improves known associations and can identify low-frequency variant-phenotype associations undetected by HapMap based imputation.

rs371271054 in TPK1 gene and THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE) PMID 22152682 2011 Thiamine pyrophosphokinase deficiency in encephalopathic children with defects in the pyruvate oxidation pathway.