Gene Symbol | TKT |
Entrez Gene ID | 7086 |
Full Name | transketolase |
Synonyms | HEL-S-48,HEL107,SDDHD,TK,TKT1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a thiamine-dependent enzyme which plays a role in the channeling of excess sugar phosphates to glycolysis in the pentose phosphate pathway. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Apr 2012]. |
Disorder MIM: | |
Disorder Html: | Short stature, developmental delay, and congenital heart defects, 617044 (3) |