TPK1, Official Symbol TPK1provided by HGNC Official Full Name thiamin pyrophosphokinase 1provided by HGNC Primary source HGNC:HGNC:17358 See related Ensembl:ENSG00000196511 MIM:606370; AllianceGenome:HGNC:17358 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo 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] Expression Ubiquitous expression in duodenum (RPKM 1.3), testis (RPKM 0.7) and 24 other tissues See more Orthologs mouse all