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]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| PNPO-20-RE | 20 (40 μL) | 200 μL |  |
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| PNPO-20-OR | 20 (40 μL) | 200 μL |  |
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| PNPO-20-GO | 20 (40 μL) | 200 μL |  |
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| PNPO-20-GR | 20 (40 μL) | 200 μL |  |
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| PNPO-20-AQ | 20 (40 μL) | 200 μL |  |
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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 Symbol : PNPO
Gene Name : Pyridoxamine 5'-phosphate oxidase
Chromosome : CHR 17: 479,415,22-479,493,07
Locus : 17q21.32
Alt. Genes : RAD50
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