| SMPD1 |
| LOCUS ID | 6609 | ||||||||||
| GENE_SYMBOL | SMPD1 | ||||||||||
| GENE NAME | sphingomyelin phosph | ||||||||||
| SYNONYMNS | ASM, NPD, ASMASE | ||||||||||
| CHROMOSOME | 11 | ||||||||||
| HOMOLOGENE ID | 457 |
| microRNAs | NA | NA |
| 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 |
| Retinopathy | 1. Inhibition of ASM could be further explored as a potential therapeutic strategy in treating diabetic retinopathy. | 21771974 |