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Human SMPD1 quantitates human SMPD1 in serum, plasma, supernatant. The assay will exclusively recognize both natural and recombinant human SMPD1.
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). Three transcript variants encoding two different isoforms have been found for this gene.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
基因别名 : ASM, ASMASE, NPD, SMPD1
基因ID : (Human) 6609
基因符号 : SMPD1
蛋白别名 : Acid sphingomyelinase, aSMase, Sphingomyelin phosphodiesterase, sphingomyelin phosphodiesterase 1, acid lysosomal
UniProt ID (Human) P17405