靶标：
PNPO
产品别名：
HEL-S-302； PDXPO； PNPO； pyridoxamine 5'-phosphate oxidase； pyridoxamine 5'-phosphate oxidase； pyridoxine-5'-phosphate oxidase； epididymis secretory protein Li 302； epididymis secretory sperm binding protein； pyridoxal 5'-phosphate synthase； pyridoxamine-phosphate oxidase； pyridoxine 5'-phosphate oxidase； 吡哆胺-5'-磷酸氧化酶(PNPO)； 磷酸吡哆醇氧化酶；
背景信息：
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.
