🧬 基因注释：SMPD1
📝 官方信息
官方名称：sphingomyelin phosphodiesterase 1
功能摘要：The protein encoded by this gene is a lysosomal acid sphingomyelinase that converts sphingomyelin to ceramide. The encoded protein also has phospholipase C activity. Defects in this gene are a cause of Niemann-Pick disease type A (NPA) and Niemann-Pick disease type B (NPB). Multiple transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2010].
🎯 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