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].
Product | Size | List | Your Price | Qty | Ext Price | ||||
---|---|---|---|---|---|---|---|---|---|
Subtotal: | Subtotal: | ||||||||
Subtotal: | Subtotal: | ||||||||
Total Coupon Savings: | Total Coupon Savings: | () | |||||||
Your cart is currently empty. | |||||||||
- Coupon Code |