SMPD1
LOCUS ID6609
GENE_SYMBOLSMPD1
GENE NAMEsphingomyelin phosphodiesterase 1, acid lysosomal
SYNONYMNSASM, NPD, ASMASE
CHROMOSOME11
HOMOLOGENE ID457
microRNAsNANA
GENE SUMMARY
The protein encoded by this gene is a lysosomal acid sphingomyelise 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]

OBSERVATIONS

Complication Evidence PMID
Retinopathy1. Inhibition of ASM could be further explored as a potential therapeutic strategy in treating diabetic retinopathy.21771974