TKT

The gene TKT encodes for the enzyme transketolase, also known as thiamine-dependent transketolase. This enzyme plays a crucial role in the non-oxidative phase of the pentose phosphate pathway, catalyzing the transfer of two ketol carbon units between sugars. TKT deficiency is associated with a syndrome characterized by short stature, developmental delay, and congenital heart defects. The enzyme's activity is regulated by thiamine and is essential for nucleic acid synthesis and cell division. TKT mutations have been linked to various metabolic disorders and are a focus of drug development efforts aimed at treating related pathologies.