Pyridoxamine 5'-phosphate oxidase (PNPO) Associated conditions: 1. Pyridoxal phosphate-responsive seizures
| SNo. | Status | mRNA accession | Protein accession | Genomic DNA accession (Chromosome) | mRNA location on genomic DNA | Assembly | UniProtkb ID |
| 1 | REVIEWED | NM_018129.4 | NP_060599.1 | NC_000017.11 | (47941570..47949307) | Reference GRCh38.p14 Primary Assembly | V9HW45 |
Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.
Variant Information Pyridoxamine 5'-phosphate oxidase (PNPO) Mutation Visualization Dashboard: Pathogenic variant distribution chart
IndiGenomes variants: Exploring and mapping pathogenic variants in gene Pyridoxamine 5'-phosphate oxidase (PNPO)
ClinVar variants:Revealing mutagenic patterns
| SNo. | Reported in speceis | Evidence | Qualifier | GO term | Category | Pubmed Link |
| 1 | Homo sapiens | IBA | enables | pyridoxamine phosphate oxidase activity | Function | 21873635 |
| 2 | Homo sapiens | IDA | enables | pyridoxamine phosphate oxidase activity | Function | 12824491 15772097 |
| 3 | Homo sapiens | IPI | enables | protein binding | Function | 25910212 32296183 |
| 4 | Homo sapiens | TAS | located_in | cytosol | Component | - |
| 5 | Homo sapiens | IEA | involved_in | pyridoxine biosynthetic process | Process | - |
| 6 | Homo sapiens | IDA | enables | FMN binding | Function | 12824491 |
| 7 | Homo sapiens | IDA | enables | pyridoxal phosphate binding | Function | 12824491 |
| 8 | Homo sapiens | IDA | enables | protein homodimerization activity | Function | 12824491 |
| 9 | Homo sapiens | IEA | involved_in | pyridoxamine metabolic process | Process | - |
| 10 | Homo sapiens | IBA | involved_in | pyridoxal phosphate biosynthetic process | Process | 21873635 |
| 11 | Homo sapiens | IDA | involved_in | pyridoxal phosphate biosynthetic process | Process | 12824491 |