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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.
⚠WARNING: This product can expose you to chemicals including mercury, which is known to the State of California to cause birth defects or other reproductive harm. For more information go to www.P65Warnings.ca.gov.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: Acid sphingomyelinase; ASMase; Sphingomyelin phosphodiesterase; sphingomyelin phosphodiesterase 1, acid lysosomal
Gene Aliases: A-SMase; ASM; ASMASE; NPD; SMPD1; Zn-SMase
UniProt ID: (Human) P17405, (Mouse) Q04519
Entrez Gene ID: (Human) 6609, (Rat) 308909, (Mouse) 20597
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