Gene Symbol | SMPD1 |
Entrez Gene ID | 6609 |
Full Name | sphingomyelin phosphodiesterase 1 |
Synonyms | ASM,ASMASE,NPD |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Niemann-Pick disease, type A, 257200 (3); Niemann-Pick disease, type B, 607616 (3) |