Entrez gene ID | | 6609 |
Official gene symbol | | SMPD1 |
Full name | | sphingomyelin phosphodiesterase 1, acid lysosomal |
Aliases | | ,ASM,NPD, |
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] |
Location | | Chromosome: 11 Locus: 11p15.4-p15.1 |
Gene position | | 6411644 - 6416228 Map Viewer |
Gene orientation | | plus |
Gene size | | 4585 bp |
Gene sequence |
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OMIM ID | | 607608 |