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].
via MyGene.info
REDIRECT Pyridoxine 5′-phosphate oxidase
Category:Genes mutated in mice
Discovered by embedding cosine similarity (sentence-transformers MiniLM, 384-dim).