SMPD1
Sign in to saveAlso known as ASM, ASMASE, NPD, Sphingomyelin phosphodiesterase 1
protein-coding gene in the species Homo sapiens
Gene data
SMPD1- Name
- sphingomyelin phosphodiesterase 1
- Type
- protein-coding
- Aliases
- ASM, ASMASE, NPD
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].
via MyGene.info
Wikidata facts
Show 5 more facts
- HomoloGene ID
- 457
- exact match
- identifiers.org/ncbigene/6609
- genomic end
- 6416228
- genomic start
- 6390440
- cytogenetic location
- 11p15.4
Sources (3)
via Wikidata · CC0
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