Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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.
| 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 |
| 1. |
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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
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| 9. |
OMIM.ORG article Omim 606781
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| 10. |
Orphanet article Orphanet ID 489978
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| 11. |
Wikipedia article Wikipedia EN (Transketolase)
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