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). Multiple transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2010]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| SMPD1-20-RE | 20 (40 μL) | 200 μL |  |
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| SMPD1-20-OR | 20 (40 μL) | 200 μL |  |
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| SMPD1-20-GO | 20 (40 μL) | 200 μL |  |
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| SMPD1-20-GR | 20 (40 μL) | 200 μL |  |
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| SMPD1-20-AQ | 20 (40 μL) | 200 μL |  |
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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). Multiple transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2010]
Gene Symbol : SMPD1
Gene Name : Sphingomyelin phosphodiesterase 1
Chromosome : CHR 11: 639,030,0-639,499,7
Locus : 11p15.4
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