| ncRNA Symbol: | SMPD1 |
| Full Name: | sphingomyelin phosphodiesterase 1 |
| Category: | mRNA |
| Synonyms: | ASM|ASMASE|NPD |
| Chromosome: | chr11 |
| Strand: | + |
| Coordinate: | | Start Site(bp): | 6390431 | End Site(bp): | 6394998 | |
| 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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