| AgACC | Ag003515 |
| Date | 19-08-2008 |
| Last updated | 10-10-2019 |
| Antigen Name | TPI1 |
| Common Name | Triosephosphate isomerase or TPI1 |
| Full Name | Triose-phosphate isomerase |
| Synonym | Triosephosphate isomerase; triosphosphaye isomerase1; EC 5.3.1.1; MGC88108; TIM; TPI1
another display format
- Triosephosphate isomerase
- triosphosphaye isomerase1
- EC 5.3.1.1
- MGC88108
- TIM
- TPI1
|
| UniProt ID | P60174
|
| NCBI Gene ID | 7167 |
| GeneCard ID | GC12P006876 |
| SwissProt VARIANT ID | VAR_007538 |
| Comment | Triosephosphate isomerase deficiency (TPI deficiency) - Defects in TPI1 are the cause of triosephosphate isomerase deficiency. TPI deficiency is an autosomal recessive disorder. It is the most severe clinical disorder of glycolysis. It is associated with neonatal jaundice, chronic hemolytic anemia, progressive neuromuscular dysfunction, cardiomyopathy and increased susceptibility to infection |
| Annotation | This is a fragment sequence. |
| Isoforms | Ag000117, Ag000118, Ag000116
Alignment of all Isoforms |
| Mutation entries | Ag003511, Ag003512, Ag003513, Ag003514, Ag003515, Ag003516, Ag003517, Ag003518, Ag004387
View mutation map |
| RNA/protein expression profile | RNA and protein Expression profile |
| Predicted HLA binders | |
| Reference sequence | REAGITEKVVFEQTKVIADNVKDWSKVVLAYEPVWAIGTGK |
| Antigen sequence | REAGITEKVVFEQTKVIADNMKDWSKVVLAYEPVWAIGTGK |