SMPD1
Chr 11ARsphingomyelin phosphodiesterase 1
Also known as: 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]
Primary Disease Associations & Inheritance
Clinical highlights
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
SMPD1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Screening for Gaucher Disease and Acid Sphingomyelinase Deficiency
NOT YET RECRUITINGThe Effect of Topical Imipramine on Photodynamic Therapy-Mediated Immunosuppression on Forearms or Face on US Veterans
RECRUITINGScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening Program
ENROLLING BY INVITATIONExternal Resources
Links to major genomics databases and tools