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 |
Related Diseases:
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
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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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Update: Aug. 14, 2020