Symbol: Name: ID: |
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal GFS:1027 |
Gene name: | SMPD1 |
Chromosome: | 11p15.4-p15.1 |
Previous Symbols: | |
Previous Names: | |
Aliases: | ASM |
Name Aliases: | acid sphingomyelinase |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:98325 | Rat Genome Database ID: | RGD:1549719 |
HGNC ID: | HGNC:11120 | RefSeq IDs: | NM_000543 |
Entrez Gene ID: | 6609 | Ensembl Gene ID: | ENSG00000166311 |
VEGA IDs: | UniProt ID: | P17405 | |
UCSC ID: | uc001mcw.2 | OMIM ID: | 607608 |
Pubmed: | PMID1711683 | ||
CCDS IDs: | CCDSCCDS31409.1 CCDS CCDS44531.1 |
Sphingomyelin phosphodiesterase 1 also known as acid sphingomyelinase is an enzyme that in humans is encoded by the SMPD1 gene. 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].
Converts sphingomyelin to ceramide. Also has phospholipase C activities toward 1,2-diacylglycerolphosphocholine and 1,2-diacylglycerolphosphoglycerol. Isoform 2 and isoform 3 have lost catalytic activity.
Products for SMPD1 gene
Catalog | Product Name | Application | Company |
GFS:E01027 | sphingomyelin phosphodiesterase 1, acid lysosomal; ELISA kit | ELISA | n/a |
GFS:A01027 | sphingomyelin phosphodiesterase 1, acid lysosomal; Anti | ANTIBODIES | n/a |
GFS:P01027 | sphingomyelin phosphodiesterase 1, acid lysosomal; Protien | Protien | n/a |