| GENE NAME | TKTL1 |
| CHROMOSOME | X |
| ENSEMBL ID | ENSG00000007350 |
| ENTREZ ID | 8277 |
| UNIPROT ACCESSION NUMBER | P51854 |
| GO MOLECULAR FUNCTION | metal ion binding; thiamine pyrophosphate binding; transketolase activity |
| ESSENTIAL IN MOUSE | Non-essential |
| PATHWAYS | hsa01200; hsa01100; hsa00030; hsa01230; hsa01100; hsa01200; hsa00030; hsa01230 |
| 1 combination linked to TKTL1 | OLI919 |
| 1 variant linked to TKTL1 | TKTL1:c.958A>G, p.Thr320Ala |
| 1 disease linked to TKTL1 | Isolated spina bifida |