Gene: TKT

Alternate names for this Gene: HEL-S-48|HEL107|SDDHD|TK|TKT1

Gene Summary: This gene encodes a thiamine-dependent enzyme which plays a role in the channeling of excess sugar phosphates to glycolysis in the pentose phosphate pathway. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.

Gene is located in Chromosome: 3

Location in Chromosome : 3p21.1

Description of this Gene: transketolase

Type of Gene: protein-coding

rs4687718 in TKT gene and Heart Function Tests PMID 21076409 2010 Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction.

rs4687718 in TKT gene and QRS complex feature PMID 27659466 2016 52 Genetic Loci Influencing Myocardial Mass.

rs782092363 in TKT gene and SHORT STATURE, DEVELOPMENTAL DELAY, AND CONGENITAL HEART DEFECTS PMID 27259054 2016 Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects.