SMPD1
MIM.607608 11p15.4-p15.1
Acid sphingomyelinase (ASM) is the lipid hydrolase that is deficient in types A and B Niemann-Pick disease (NPD). The gene encoding ASM is SMPD1
Pathology
germline mutations in
- Niemann-Pick disease type A (MIM.257200)
- Niemann-Pick disease type B (MIM.607616)
SMPD1 is paternally imprinted and differential expression of the mutant alleles in patients with ASM-deficient NPD and in carriers influences the disease phenotype.