TKTL1
transketolase like 1
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]
Known Variants31 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs147356870 | X:153,524,235 | C/T | — | benign |
| rs879988731 | X:153,524,263 | C/G | — | uncertain significance |
| rs781826654 | X:153,524,301 | G/A | — | uncertain significance |
| rs2067222957 | X:153,524,305 | G/T | — | uncertain significance |
| rs146955770 | X:153,524,322 | G/T | — | uncertain significance |
| rs142166417 | X:153,524,337 | C/T | — | uncertain significance |
| rs17336718 | X:153,536,119 | C/T | intron variant | — |
| rs199531907 | X:153,537,736 | C/G | — | uncertain significance |
| rs782226756 | X:153,539,209 | A/G | — | likely benign |
| rs782493362 | X:153,539,324 | C/T | — | uncertain significance |
| rs1446527811 | X:153,539,493 | G/A | — | uncertain significance |
| rs146912512 | X:153,541,062 | C/G | — | uncertain significance |
| rs1179635832 | X:153,543,619 | T/C | — | uncertain significance |
| rs6655282 | X:153,546,556 | G/A | intron variant | — |
| rs2283760 | X:153,547,818 | T/C | intron variant | — |
| rs377204314 | X:153,549,143 | A/G | — | uncertain significance |
| rs782342823 | X:153,549,162 | T/G | — | uncertain significance |
| rs2067444501 | X:153,549,230 | A/G | — | uncertain significance |
| rs372054381 | X:153,549,251 | G/T | — | uncertain significance |
| rs5987245 | X:153,551,383 | A/G | intron variant | — |
| rs142614631 | X:153,551,619 | C/T | — | uncertain significance |
| rs191591693 | X:153,551,649 | C/T | — | uncertain significance |
| rs782346636 | X:153,551,676 | A/G | — | uncertain significance |
| rs2522686548 | X:153,553,704 | C/T | — | uncertain significance |
| rs782667299 | X:153,553,746 | G/A | — | uncertain significance |
| rs766420 | X:153,554,404 | C/A | — | — |
| rs766419 | X:153,554,661 | A/G | intron variant | — |
| rs1238902969 | X:153,556,209 | T/C | — | uncertain significance |
| rs2522691522 | X:153,556,291 | T/A | — | uncertain significance |
| rs2522695195 | X:153,557,944 | T/C | — | uncertain significance |
| rs190080682 | X:153,558,024 | A/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.