Transketolase
Das TKT-Gen kodiert ein thiamin-abhängiges Enzym des Glukosestoffwechsels. Mutationen führen zu einer autosomal rezessiven Erkrankung mit Wachstums- und Entwicklungsverzögerung sowie kongenitalen Herzfehlern.
Gentests:
Forschung |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
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None () ////
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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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Lapsys NM et al. (1992) Chromosomal location of the human transketolase gene.
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Abedinia M et al. (1992) Nucleotide and predicted amino acid sequence of a cDNA clone encoding part of human transketolase.
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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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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 Artikel
Wikipedia DE (Transketolase)
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Update: 14. August 2020