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SMPD1

Anti-SMPD1 Recombinant Antibody Products

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For Research Use Only. Not For Clinical Use.


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.
Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets

Predicted location

Intracellular, Secreted (different isoforms)

Single cell type specificity

Cell type enhanced (Late spermatids, Distal enterocytes)

Immune cell specificity

Low immune cell specificity

Cell line specificity

Cell line enhanced (ASC diff, fHDF/TERT166)

Interaction

Monomer. Interacts with SORT1; the interaction is required for SMPD1 targeting to lysosomes (PubMed:16787399).

Molecular function

Glycosidase, Hydrolase

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