PNPO Antibody – Mouse Monoclonal

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]

PNPO: Catalyzes the oxidation of either pyridoxine 5'- phosphate (PNP) or pyridoxamine 5'-phosphate (PMP) into pyridoxal 5'-phosphate (PLP). Defects in PNPO are the cause of pyridoxine-5'-phosphate oxidase deficiency (PNPO deficiency); also known as PNPO-related neonatal epileptic encephalopathy. 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. Belongs to the pyridoxamine 5'-phosphate oxidase family.

Protein type: EC 1.4.3.5; Cofactor and Vitamin Metabolism - vitamin B6; Oxidoreductase

Chromosomal Location of Human Ortholog: 17q21.32

Cellular Component: nucleoplasm; cytoplasm; cytosol

Molecular Function: FMN binding; pyridoxamine-phosphate oxidase activity

Biological Process: vitamin metabolic process; vitamin B6 metabolic process; pyridoxine biosynthetic process; water-soluble vitamin metabolic process; pyridoxal phosphate biosynthetic process

Disease: Pyridoxamine 5-prime-phosphate Oxidase Deficiency