Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Product may be used with Western Blot (Transfected lysate).
Immunogen sequence: MPRYGASLRQ SCPRSGREQG QDGTAGAPGL LWMGLALALA LALALALSDS RVLWAPAEAH PLSPQGHPAR LHRIVPRLRD VFGWGNLTCP ICKGLFTAIN LGLKKEPNVA RVGSVAIKLC NLLKIAPPAV CRSIVHLFED DMVEVWRRSV LSPSEACGLL LGSTCGHWDI FSSWNISLPT VPKPPPKPPS PPAPGAPVSR ILFLTDLHWD HDYLEGTDPD CADPLCCRRG SGLPPASRPG AGYWGEYSKC DLPLRTLESL LSGLGPAGPF DMVYWTGDIP AHDVWHQTRQ DQLRALTTVT ALVRKFLGPV PVYPAVGNHE STPVNSFPPP FIEGNHSSRW LYEAMAKAWE PWLPAEALRT LRCI
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: ASM; ASMASE; NPD; SMPD1
UniProt ID: (Human) P17405
Entrez Gene ID: (Human) 6609
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