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Positive Samples: THP-1, HepG2, U-251MG, MCF-7, Mouse brain, Mouse liver, Rat brain, Rat liver; Cellular Location: Lysosome
Immunogen sequence: PARLHRIVPR LRDVFGWGNL TCPICKGLFT AINLGLKKEP NVARVGSVAI KLCNLLKIAP PAVCQSIVHL FEDDMVEVWR RSVLSPSEAC GLLLGSTCGH WDIFSSWNIS LPTVPKPPPK PPSPPAPGAP VSRILFLTDL HWDHDYLEGT DPDCADPLCC RRGSGLPPAS RPGAGYWGEY SKCDLPLRTL ESLLSGLGPA GPFDMVYWTG DIPAHDVWHQ TRQDQLRALT TVTALVRKFL GPVPVYPAVG NHESTPVNSF PPPFIEGNHS S
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.
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仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: Acid sphingomyelinase; ASMase; Sphingomyelin phosphodiesterase; sphingomyelin phosphodiesterase 1, acid lysosomal
基因别名: A-SMase; ASM; ASMASE; NPD; SMPD1; Zn-SMase
UniProt ID: (Human) P17405, (Mouse) Q04519
Entrez Gene ID: (Human) 6609, (Rat) 308909, (Mouse) 20597
分子生物学功能: hydrolase phosphodiesterase metabolite interconversion enzyme