TKTL1 - transketolase like 1 Gene
Also Known as TKR; TKT2
Species: Homo sapiens
About TKTL1
This gene has 8 transcripts (splice variants), 97 orthologues and 4 paralogues. Restricted expression toward testis (RPKM 88.4).
Summary
The protein encoded by this gene is a Transketolase that 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. This reaction links the pentose phosphate pathway with the glycolytic pathway. Variations in this gene may be the cause of Wernicke-Korsakoff syndrome. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]
TKTL1 Products (3)
| mRNA | Protein | Name |
|---|---|---|
| NM_001145933.2 | NP_001139405.1 | transketolase-like protein 1 isoform b |
| NM_001145934.2 | NP_001139406.1 | transketolase-like protein 1 isoform c |
| NM_012253.4 | NP_036385.3 | transketolase-like protein 1 isoform a |
TKTL1 Protein Structure
Transketolase_N: Transketolase, thiamine diphosphate binding domain (25 - 84)
Transketolase_N: Transketolase, thiamine diphosphate binding domain (88 - 240)
Transket_pyr: Transketolase, pyrimidine binding domain (288 - 450)
Transketolase_C: Transketolase, C-terminal domain (468 - 586)
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- 596 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
transketolase-like protein 1 |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Wernicke-Korsakoff Syndrome |
|
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| Hypochondroplasia |
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| Dry Beriberi |
|
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| Thiamine Deficiency Disease |
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| Conjunctival Nevus |
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| Beriberi |
|
|