PNPO

GENE INFORMATION

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Gene name

PNPO (HGNC Symbol)

Synonyms

PDXPO

Description

Pyridoxamine 5'-phosphate oxidase (HGNC Symbol)

Entrez gene summary

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]

Chromosome

17

Cytoband

q21.32

Chromosome location (bp)

47941506 - 47948288

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000108439 (version 78.38)

Entrez gene

55163

UniProt

Q9NVS9 (UniProt - Evidence at protein level)

neXtProt

NX_Q9NVS9

Antibodypedia

PNPO antibodies
 

PROTEIN VIEW

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PNPO-001
 
PNPO-002
 
PNPO-008
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

PNPO-001 ENSP00000225573
ENST00000225573
Q9NVS9
Show all »
Show » Show » 261 30 No 0
PNPO-002 ENSP00000399960
ENST00000434554
Q9NVS9
Show all »
Show » Show » 218 25.2 No 0
PNPO-008 ENSP00000463919
ENST00000583599
J3QQV6
Show all »
Show » Show » 120 13.9 No 0