PNPO Chromosome 17
Pyridoxamine 5'-phosphate oxidase
Upload your DNA to see your personal genotypes for variants in PNPO.
What This Gene Does
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 Info
Gene Group
Flavoproteins
Locus Type
gene with protein product
Location
17q21.32
Ensembl
ENSG00000108439
Associated Conditions (9)
Pyridoxal phosphate-responsive seizures
PNPO-related disorder
Inborn genetic diseases
Seizure
Fetal growth restriction
Growth delay
Neuronopathy
distal hereditary motor
type 5A
Key Variants
RS138727329
Conflicting classifications of pathogenicity
Pyridoxal phosphate-responsive seizures, Pyridoxal phosphate-responsive seizures
Health Risk
RS144362146
Conflicting classifications of pathogenicity
Pyridoxal phosphate-responsive seizures, PNPO-related disorder, Pyridoxal phosphate-responsive seizures
Health Risk
RS148784343
Conflicting classifications of pathogenicity
Pyridoxal phosphate-responsive seizures, Inborn genetic diseases, Pyridoxal phosphate-responsive seizures
Health Risk
RS2036008214
Conflicting classifications of pathogenicity
Pyridoxal phosphate-responsive seizures, Pyridoxal phosphate-responsive seizures
Health Risk
RS368943864
Conflicting classifications of pathogenicity
Pyridoxal phosphate-responsive seizures, Pyridoxal phosphate-responsive seizures
Health Risk
RS546737191
Conflicting classifications of pathogenicity
Pyridoxal phosphate-responsive seizures, Inborn genetic diseases, PNPO-related disorder
Health Risk
RS750566159
Conflicting classifications of pathogenicity
Pyridoxal phosphate-responsive seizures, Pyridoxal phosphate-responsive seizures
Health Risk
RS764940495
Conflicting classifications of pathogenicity
Pyridoxal phosphate-responsive seizures, Pyridoxal phosphate-responsive seizures
Health Risk
RS765997859
Conflicting classifications of pathogenicity
Pyridoxal phosphate-responsive seizures, Inborn genetic diseases, Pyridoxal phosphate-responsive seizures
Health Risk
RS766668907
Conflicting classifications of pathogenicity
Pyridoxal phosphate-responsive seizures, Inborn genetic diseases, Pyridoxal phosphate-responsive seizures
Health Risk
RS770981773
Conflicting classifications of pathogenicity
Pyridoxal phosphate-responsive seizures, Pyridoxal phosphate-responsive seizures
Health Risk
RS796052870
Conflicting classifications of pathogenicity
Pyridoxal phosphate-responsive seizures, Pyridoxal phosphate-responsive seizures
Health Risk
All Variants (48)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138727329 | Health Risk | Conflicting classifications of pathogenicity | Pyridoxal phosphate-responsive seizures, Pyridoxal phosphate-responsive seizures |
| RS144362146 | Health Risk | Conflicting classifications of pathogenicity | Pyridoxal phosphate-responsive seizures, PNPO-related disorder, Pyridoxal phosphate-responsive seizures |
| RS148784343 | Health Risk | Conflicting classifications of pathogenicity | Pyridoxal phosphate-responsive seizures, Inborn genetic diseases, Pyridoxal phosphate-responsive seizures |
| RS2036008214 | Health Risk | Conflicting classifications of pathogenicity | Pyridoxal phosphate-responsive seizures, Pyridoxal phosphate-responsive seizures |
| RS368943864 | Health Risk | Conflicting classifications of pathogenicity | Pyridoxal phosphate-responsive seizures, Pyridoxal phosphate-responsive seizures |
| RS546737191 | Health Risk | Conflicting classifications of pathogenicity | Pyridoxal phosphate-responsive seizures, Inborn genetic diseases, PNPO-related disorder |
| RS750566159 | Health Risk | Conflicting classifications of pathogenicity | Pyridoxal phosphate-responsive seizures, Pyridoxal phosphate-responsive seizures |
| RS764940495 | Health Risk | Conflicting classifications of pathogenicity | Pyridoxal phosphate-responsive seizures, Pyridoxal phosphate-responsive seizures |
| RS765997859 | Health Risk | Conflicting classifications of pathogenicity | Pyridoxal phosphate-responsive seizures, Inborn genetic diseases, Pyridoxal phosphate-responsive seizures |
| RS766668907 | Health Risk | Conflicting classifications of pathogenicity | Pyridoxal phosphate-responsive seizures, Inborn genetic diseases, Pyridoxal phosphate-responsive seizures |
| RS770981773 | Health Risk | Conflicting classifications of pathogenicity | Pyridoxal phosphate-responsive seizures, Pyridoxal phosphate-responsive seizures |
| RS796052870 | Health Risk | Conflicting classifications of pathogenicity | Pyridoxal phosphate-responsive seizures, Pyridoxal phosphate-responsive seizures |
| RS1057524504 | Health Risk | Likely pathogenic | — |
| RS2144165139 | Health Risk | Likely pathogenic | Pyridoxal phosphate-responsive seizures, Pyridoxal phosphate-responsive seizures |
| RS2144166583 | Health Risk | Likely pathogenic | Pyridoxal phosphate-responsive seizures, Pyridoxal phosphate-responsive seizures |
| RS2509287507 | Health Risk | Likely pathogenic | Pyridoxal phosphate-responsive seizures, Pyridoxal phosphate-responsive seizures |
| RS2509291965 | Health Risk | Likely pathogenic | Pyridoxal phosphate-responsive seizures, Pyridoxal phosphate-responsive seizures |
| RS766037058 | Health Risk | Likely pathogenic | Pyridoxal phosphate-responsive seizures, Pyridoxal phosphate-responsive seizures |
| RS768211557 | Health Risk | Likely pathogenic | Pyridoxal phosphate-responsive seizures, Pyridoxal phosphate-responsive seizures |
| RS780977054 | Health Risk | Likely pathogenic | Pyridoxal phosphate-responsive seizures, Pyridoxal phosphate-responsive seizures |
| RS796052869 | Health Risk | Likely pathogenic | Pyridoxal phosphate-responsive seizures, Pyridoxal phosphate-responsive seizures |
| RS887046625 | Health Risk | Likely pathogenic | Pyridoxal phosphate-responsive seizures, Pyridoxal phosphate-responsive seizures |
| RS104894631 | Health Risk | Pathogenic | Pyridoxal phosphate-responsive seizures, Pyridoxal phosphate-responsive seizures |
| RS1310951750 | Health Risk | Pathogenic | Pyridoxal phosphate-responsive seizures, Pyridoxal phosphate-responsive seizures |
| RS1485001564 | Health Risk | Pathogenic | Pyridoxal phosphate-responsive seizures, Pyridoxal phosphate-responsive seizures |
| RS148839273 | Health Risk | Pathogenic | Pyridoxal phosphate-responsive seizures, Pyridoxal phosphate-responsive seizures |
| RS2035938455 | Health Risk | Pathogenic | Pyridoxal phosphate-responsive seizures, Pyridoxal phosphate-responsive seizures |
| RS2035968630 | Health Risk | Pathogenic | Pyridoxal phosphate-responsive seizures, Pyridoxal phosphate-responsive seizures |
| RS2509293410 | Health Risk | Pathogenic | Pyridoxal phosphate-responsive seizures, Pyridoxal phosphate-responsive seizures |
| RS2509293643 | Health Risk | Pathogenic | Pyridoxal phosphate-responsive seizures, Pyridoxal phosphate-responsive seizures |
| RS2509294585 | Health Risk | Pathogenic | Pyridoxal phosphate-responsive seizures, Pyridoxal phosphate-responsive seizures |
| RS267606958 | Health Risk | Pathogenic | Pyridoxal phosphate-responsive seizures, Pyridoxal phosphate-responsive seizures |
| RS370243877 | Health Risk | Pathogenic | Pyridoxal phosphate-responsive seizures, Inborn genetic diseases, Pyridoxal phosphate-responsive seizures |
| RS550423482 | Health Risk | Pathogenic | Pyridoxal phosphate-responsive seizures, Pyridoxal phosphate-responsive seizures, Seizure |
| RS552833222 | Health Risk | Pathogenic | Pyridoxal phosphate-responsive seizures, Pyridoxal phosphate-responsive seizures |
| RS751477334 | Health Risk | Pathogenic | Pyridoxal phosphate-responsive seizures, Pyridoxal phosphate-responsive seizures |
| RS774710082 | Health Risk | Pathogenic | Pyridoxal phosphate-responsive seizures, Pyridoxal phosphate-responsive seizures |
| RS796052872 | Health Risk | Pathogenic | Pyridoxal phosphate-responsive seizures, Pyridoxal phosphate-responsive seizures |
| RS895303255 | Health Risk | Pathogenic | Pyridoxal phosphate-responsive seizures, Pyridoxal phosphate-responsive seizures |
| RS104894629 | Health Risk | Pathogenic/Likely pathogenic | Pyridoxal phosphate-responsive seizures, Pyridoxal phosphate-responsive seizures |
| RS146027425 | Health Risk | Pathogenic/Likely pathogenic | Pyridoxal phosphate-responsive seizures, Pyridoxal phosphate-responsive seizures |
| RS1483600034 | Health Risk | Pathogenic/Likely pathogenic | Pyridoxal phosphate-responsive seizures, Seizure, Pyridoxal phosphate-responsive seizures |
| RS148597698 | Health Risk | Pathogenic/Likely pathogenic | Pyridoxal phosphate-responsive seizures, Pyridoxal phosphate-responsive seizures |
| RS766311956 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Pyridoxal phosphate-responsive seizures, Inborn genetic diseases |
| RS769266169 | Health Risk | Pathogenic/Likely pathogenic | Pyridoxal phosphate-responsive seizures, PNPO-related disorder, Pyridoxal phosphate-responsive seizures |
| RS773450573 | Health Risk | Pathogenic/Likely pathogenic | Pyridoxal phosphate-responsive seizures, PNPO-related disorder, Pyridoxal phosphate-responsive seizures |
| RS776248931 | Health Risk | Pathogenic/Likely pathogenic | Pyridoxal phosphate-responsive seizures, Inborn genetic diseases, Pyridoxal phosphate-responsive seizures |
| RS776630880 | Health Risk | Pathogenic/Likely pathogenic | Pyridoxal phosphate-responsive seizures, Pyridoxal phosphate-responsive seizures |