SMPD1 sphingomyelin phosphodiesterase 1

Gene ID: 6609, updated on 28-Oct-2024
Gene type: protein coding
Also known as: ASM; NPD; ASMASE

Summary

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]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Niemann-Pick disease, type A MedGen: C0268242OMIM: 257200GeneReviews: Acid Sphingomyelinase Deficiency	See labs
Niemann-Pick disease, type B MedGen: C0268243OMIM: 607616GeneReviews: Acid Sphingomyelinase Deficiency	See labs

Genomic context

Location:: 11p15.4

Sequence:: Chromosome: 11; NC_000011.10 (6390474..6394996)

Total number of exons:: 6

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for SMPD1 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
SMPD1 database
Variation Viewer
Related Variants

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