Entity Details
| Primary name |
PLPHP_HUMAN |
| Entity type |
UniProt |
| Source |
Source Link |
Details
| Accession | O94903 |
| EntryName | PLPHP_HUMAN |
| FullName | Pyridoxal phosphate homeostasis protein |
| TaxID | 9606 |
| Evidence | evidence at protein level |
| Length | 275 |
| SequenceStatus | complete |
| DateCreated | 2001-01-11 |
| DateModified | 2021-06-02 |
Subcellular Location
Show/Hide Table
Domains
Show/Hide Table
| Domain | Name | Category | Type |
| IPR001608 | Alanine racemase, N-terminal | Domain | Domain |
| IPR011078 | Pyridoxal phosphate homeostasis protein | Family | Family |
| IPR029066 | PLP-binding barrel | Family | Homologous superfamily |
Diseases
Show/Hide Table
| Disease ID | Source | Name | Description |
| 617290 | OMIM | Epilepsy, early-onset, vitamin B6-dependent (EPVB6D) | An autosomal recessive neurologic disorder characterized by seizures responsive to treatment with activated vitamin B6 and/or pyridoxine. Most patients show delayed psychomotor development, mental retardation and learning disability. Seizures onset is in the first days or months of life. The disease is caused by variants affecting the gene represented in this entry. |
Drugs
Show/Hide Table
| Drug | Name | Source | Type |
| DB00114 | Pyridoxal phosphate | Drugbank | small molecule |
| DB00172 | Proline | Drugbank | small molecule |
Interactions
0 interactions
| Interactor | Partner | Sources | Publications | Link |