RBCC Red Blood Cell Collection

PNPO_HUMAN

Source: PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: PNPO
Protein names and data: PNPO_HUMAN , Pyridoxine-5'-phosphate oxidase; 1.4.3.5 , Pyridoxamine-phosphate oxidase Lenght: 261 a.a.
Mass: 29988 Da
fasta formatted sequence
Function: Catalyzes the oxidation of either pyridoxine 5'- phosphate (PNP) or pyridoxamine 5'-phosphate (PMP) into pyridoxal 5'-phosphate (PLP).
Catalytic activity: Pyridoxamine 5'-phosphate + H(2)O + O(2) = pyridoxal 5'-phosphate + NH(3) + H(2)O(2). Pyridoxine 5'-phosphate + O(2) = pyridoxal 5'- phosphate + H(2)O(2).
Pathway: Cofactor biosynthesis; B6 vitamer interconversion; pyridoxal 5'-phosphate from pyridoxamine 5'-phosphate: step 1/1. Cofactor biosynthesis; B6 vitamer interconversion; pyridoxal 5'-phosphate from pyridoxine 5'-phosphate: step 1/1.
Disease: ( OMIM: 603287 610090 ) Pyridoxine-5'-phosphate oxidase deficiency (PNPO deficiency) [MIM:610090]: The main feature of neonatal epileptic encephalopathy is the onset within hours of birth of a severe seizure disorder that does not respond to anticonvulsant drugs and can be fatal. Seizures can cease with the administration of PLP, being resistant to treatment with pyridoxine,. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genetic variants

50 - 50 E -> K. VAR_029358
116 - 116 R -> Q (in dbSNP:rs17679445). VAR_029359 17679445
229 - 229 R -> W (in PNPO deficiency; strong activity decrease; dbSNP:rs104894629). VAR_029360 104894629

Database cross-references

UniProt: Q9NVS9
Ensembl: ENST00000225573
MIM: 603287
MIM: 610090
neXtProt: NX_Q9NVS9
Antibodypedia: Q9NVS9 (may not find the protein thus also not any antibody)
Local full text data: click here

Users' comments

Login to add a comment.

© Hegelab and Biomembrane 2013; Powered by TurboGears 2