PNPO Gene Summary [Human]
The enzyme encoded by this gene catalyzes the terminal, rate-limiting step in the synthesis of pyridoxal 5'-phosphate, also known as vitamin B6. Vitamin B6 is a required co-factor for enzymes involved in both homocysteine metabolism and synthesis of neurotransmitters such as catecholamine. Mutations in this gene result in pyridoxamine 5'-phosphate oxidase (PNPO) deficiency, a form of neonatal epileptic encephalopathy. [provided by RefSeq, Oct 2008]
Details
| Type | Protein Coding |
| Official Symbol | PNPO |
| Official Name | pyridoxamine 5'-phosphate oxidase [Source:HGNC Symbol;Acc:HGNC:30260] |
| Ensembl ID | ENSG00000108439 |
| Bio databases IDs | |
| Aliases | pyridoxamine 5'-phosphate oxidase, pyridoxal 5'-phosphate synthase |
| Synonyms | AI415282, HEL-S-302, PDXPO, pyridoxamine 5'-phosphate oxidase, pyridoxine 5'-phosphate oxidase, U91561 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human PNPO often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- pyridoxamine-phosphate oxidase
- Pyridoxine 5'-phosphate (PNP) oxidase-like and flavin reductase-like proteins
- Pyridoxamine 5'-phosphate oxidase
- pyridoxal phosphate binding
- FMN binding
- protein homodimerization
- enzyme
- protein binding
- Pyridoxine 5'-phosphate oxidase C-terminal dimerization region
- PLN02918
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Mitochondria
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PNPO gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- pyridoxal phosphate biosynthetic process
- pyridoxine biosynthetic process
- pyridoxamine metabolic process
Cellular Component
Where in the cell the gene product is active
- cytosol
Molecular Function
What the gene product does at the molecular level
- pyridoxamine-phosphate oxidase activity
- pyridoxal phosphate binding
- protein binding
- protein homodimerization activity
- FMN binding