PNPO
Sign in to saveAlso known as HEL-S-302, PDXPO, pyridoxamine 5'-phosphate oxidase
REDIRECT Pyridoxine 5′-phosphate oxidase
Gene data
PNPO- Name
- pyridoxamine 5'-phosphate oxidase
- Type
- protein-coding
- Position
- 47,941,506–47,964,354 (+)
- Aliases
- HEL-S-302, PDXPO
- Ensembl
- ENSG00000108439
- RefSeq RNA
- NM_001436305.1, NM_018129.4
- RefSeq protein
- NP_001423234.1, NP_060599.1
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].
Gene Ontology
Biological process
Molecular function
Cellular component
Pathways
via MyGene.info
Gene · Ensembl
pyridoxamine 5'-phosphate oxidase
- Symbol
- PNPO
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 17:47,941,506-47,964,354
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
- Image
- Protein PNPO PDB 1nrg.png
Show 7 more facts
- HomoloGene ID
- 5364
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/55163
- genomic end
- 47949308
- genomic start
- 46018872
- chromosome
- human chromosome 17
- cytogenetic location
- 17q21.32
Sources (6)
via Wikidata · CC0
~1 min read
Encyclopedic overview
REDIRECT Pyridoxine 5′-phosphate oxidase
Category:Genes mutated in mice
Excerpted from Wikipedia’s “PNPO” article, available under the CC BY-SA 4.0 licence.