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Proteintech
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Immunogen sequence: LSDSRVLWA PAEAHPLSPQ GHPARLHRIV PRLRDVFGWG NLTCPICKGL FTAINLGLKK EPNVARVGSV AIKLCNLLKI APPAVCQSIV HLFEDDMVEV WRRSVLSPSE ACGLLLGSTC GHWDIFSSWN ISLPTVPKPP PKPPSPPAPG APVSRILFLT DLHWDHDYLE GTDPDCADPL CCRRGSGLPP ASRPGAGYWG EYSKCDLPLR TLESLLSGLG PAGPFDMVYW TGDIPAHDVW HQTRQDQLRA LTTVTALVRK FLGPVPVYPA VGNHESTPVN SFPPPFIEGN HSSRWLYEAM AKAWEPWLPA EALRTLRCI (47-364 aa encoded by BC041164)
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.
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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