Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

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 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Short stature, developmental delay, and congenital heart defects
TKT

References:

1.

None () ////

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2.

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

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3.

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

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4.

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

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5.

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.

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6.

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

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7.

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

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8.

NCBI article

NCBI 7086 external link
9.

OMIM.ORG article

Omim 606781 external link
10.

Orphanet article

Orphanet ID 489978 external link
11.

Wikipedia article

Wikipedia EN (Transketolase) external link
Update: Aug. 14, 2020
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