| Protein Name | sphingomyelin phosphodiesterase 1 |
|---|---|
| Organism | Homo sapiens |
| Gene ID | 6609 |
| Gene Symbol | SMPD1 |
| UniProt | P17405 (ASM_HUMAN), E9LUE8 (E9LUE8_HUMAN), Q59EN6 (Q59EN6_HUMAN), Q8IUN0 (Q8IUN0_HUMAN), E9LUE9 (E9LUE9_HUMAN) |
| Relationships |
Total Number of functionally related compound(s) :
259
Total Number of Articles : 388 |
Description |
sphingomyelin phosphodiesterase 1 |
| Gene Summary |
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] |
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| Properties | |