GeneID: 323


Names

Common Name: TKTL1 Type: Gene
Chromosome: X (NC_000023.11) Locus: NG_028264.1 (TKTL1)
HUGO Symbol: TKTL1 Full Name: transketolase like 1
Exons: 13 Introns: 12

Description:
The protein encoded by this gene is a transketolase, a thiamine-dependent enzyme that links the pentose phosphate pathway with the glycolytic pathway. It acts as a homodimer and catalyzes the conversion of sedoheptulose 7-phosphate and D-glyceraldehyde 3-phosphate to D-ribose 5-phosphate and D-xylulose 5-phosphate. Variations in this gene may be the cause of Wernicke-Korsakoff syndrome. Three transcript variants encoding different isoforms have been found for this gene. Genetic variance in TKTL1 gene associated with episodes of pain in patients with sickle cell disease.

Synonyms: TKR , TKT2

Comments:
N/A

Publications / Origin

  1. Coy JF, Dübel S, Kioschis P, Thomas K, Micklem G, Delius H, Poustka A, Molecular cloning of tissue-specific transcripts of a transketolase-related gene: implications for the evolution of new vertebrate genes., Genomics, 32(3), 309-16, 1996
  2. Galarneau G, Coady S, Garrett ME, Jeffries N, Puggal M, Paltoo D, Soldano K, Guasch A, Ashley-Koch AE, Telen MJ, Kutlar A, Lettre G, Papanicolaou GJ, Gene-centric association study of acute chest syndrome and painful crisis in sickle cell disease patients., Blood , 122(3), 434-42, 2013
Created on 2019-11-29 12:04:26, Last reviewed on (Show full history)


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