Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Transketolase

The TKT gene encodes a thiamine-dependent enzyme that plays an important role in carbohydrate metabolism. Mutations cause autosomal recessive growth and developmental delay and congenital heart failure.

Genetests:

Research Method Carrier testing
Turnaround 5
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25
Specimen type genomic DNA

Related Diseases:

Short stature, developmental delay, and congenital heart defects
TKT

References:

1.

Boyle L et. al. (2016) Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects.

2.

Lapsys NM et. al. (1992) Chromosomal location of the human transketolase gene.

[^]
3.

Abedinia M et. al. (1992) Nucleotide and predicted amino acid sequence of a cDNA clone encoding part of human transketolase.

[^]
4.

McCool BA et. al. (1993) Cloning of human transketolase cDNAs and comparison of the nucleotide sequence of the coding region in Wernicke-Korsakoff and non-Wernicke-Korsakoff individuals.

[^]
5.

Coy JF et. al. (1996) Molecular cloning of tissue-specific transcripts of a transketolase-related gene: implications for the evolution of new vertebrate genes.

[^]
6.

Xu ZP et. al. (2002) Transketolase haploinsufficiency reduces adipose tissue and female fertility in mice.

[^]
Update: Sept. 26, 2018