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SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal

Also known as: ASM; NPD; ASMASE

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]

Genomic context

Location:
11p15.4-p15.1
Sequence:
Chromosome: 11; NC_000011.10 (6390331..6394998)
Total number of exons:
6

Links

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