SMPD1


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SMPD1

A gene on chromosome 11p15.4-p15.1 that encodes a lysosomal acid sphingomyelinase, which converts sphingomyelin to ceramide and has phospholipase C activity.

Molecular pathology
SMPD1 mutations are linked to Niemann-Pick disease types A and B.
References in periodicals archive ?
Compound heterozygosity at the sphingomyelin phosphodiesterase-1 (SMPD1) gene is associated with low HDL cholesterol.
Imprinting at the SMPD1 locus: implications for acid sphingomyelinase-deficient Niemann-Pick disease.
The expression of the following enzymes was investigated: ceramide synthase 2 (CerS2), ceramide synthase 4 (CerS4), fatty acid elongase 1 (ELOVL1), fatty acid elongase 3 (ELOVL3), alkaline ceramidase 2 (ACER2), serine palmitoyltransferase, long chain base subunit 2 (SPTLC2), sphingomyelin phosphodiesterase 1 acid lysosomal (SMPD1), and stearoyl-CoA desaturase (delta-9-desaturase, SCD1).