🧬 基因注释：NPL
📝 官方信息
官方名称：N-acetylneuraminate pyruvate lyase
功能摘要：This gene encodes a member of the N-acetylneuraminate lyase sub-family of (beta/alpha)(8)-barrel enzymes. N-acetylneuraminate lyases regulate cellular concentrations of N-acetyl-neuraminic acid (sialic acid) by mediating the reversible conversion of sialic acid into N-acetylmannosamine and pyruvate. A pseudogene of this gene is located on the short arm of chromosome 2. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011].
🎯 作为靶基因的剪接因子
🏥 关联疾病
该基因暂无关联疾病记录