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Literature summary for 2.7.7.40 extracted from
- Cytidine diphosphate-ribitol analysis for diagnostics and treatment monitoring of cytidine diphosphate-l-ribitol pyrophosphorylase A muscular dystrophy (2019), Clin. Chem., 65, 1295-1306 .
Protein Variants
| Protein Variants | Comment | Organism |
|---|---|---|
| A122P | the mutation potentially affects cytidyltransferase activity | Homo sapiens |
| A216D | the mutation potentially affects cytidyltransferase activity | Homo sapiens |
| G54A | the mutation potentially affects cytidyltransferase activity | Homo sapiens |
| R184G | the mutation potentially affects cytidyltransferase activity | Homo sapiens |
Natural Substrates/ Products (Substrates)
| Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
|---|---|---|---|---|---|---|
| CTP + D-ribitol 5-phosphate | Homo sapiens | - |
diphosphate + CDP-ribitol | - |
? |  |
| CTP + D-ribitol 5-phosphate | Mus musculus | - |
diphosphate + CDP-ribitol | - |
? | |
Organism
| Organism | UniProt | Comment | Textmining |
|---|---|---|---|
| Homo sapiens | A4D126 | - |
- |
| Mus musculus | Q5RJG7 | - |
- |
Source Tissue
| Source Tissue | Comment | Organism | Textmining |
|---|---|---|---|
| brain | highest activity | Mus musculus | - |
| cerebellum | highest activity | Mus musculus | - |
| heart | - |
Homo sapiens | - |
| heart | - |
Mus musculus | - |
| HEK-293 cell | - |
Homo sapiens | - |
| liver | - |
Homo sapiens | - |
| liver | - |
Mus musculus | - |
| skeletal muscle | highest activity | Homo sapiens | - |
| skeletal muscle | high activity | Mus musculus | - |
Substrates and Products (Substrate)
| Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
|---|---|---|---|---|---|---|
| CTP + D-ribitol 5-phosphate | - |
Homo sapiens | diphosphate + CDP-ribitol | - |
? | |
| CTP + D-ribitol 5-phosphate | - |
Mus musculus | diphosphate + CDP-ribitol | - |
? | |
Synonyms
| Synonyms | Comment | Organism |
|---|---|---|
| CDP-L-ribitol pyrophosphorylase A | - |
Homo sapiens |
| CDP-L-ribitol pyrophosphorylase A | - |
Mus musculus |
| CRPPA | - |
Homo sapiens |
| CRPPA | - |
Mus musculus |
| cytidine diphosphate-l-ribitol pyrophosphorylase A | - |
Homo sapiens |
| cytidine diphosphate-l-ribitol pyrophosphorylase A | - |
Mus musculus |
| IspD | - |
Homo sapiens |
| IspD | - |
Mus musculus |
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Release 2023.1 (January 2023)
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