Acid Sphingomyelinase (SMPD1) Antibody – Rabbit Polyclonal

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]

SMPD1: 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. Monomer. Belongs to the acid sphingomyelinase family. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: Lipid Metabolism - sphingolipid; EC 3.1.4.12; Phosphodiesterase

Chromosomal Location of Human Ortholog: 11p15.4-p15.1

Cellular Component: extracellular space; lysosomal lumen; lysosome; plasma membrane; endosome; lamellar body

Molecular Function: protein binding; sphingomyelin phosphodiesterase activity; hydrolase activity, acting on glycosyl bonds

Biological Process: response to drug; nervous system development; negative regulation of MAP kinase activity; sphingolipid metabolic process; sphingomyelin metabolic process; positive regulation of apoptosis; ceramide biosynthetic process; glycosphingolipid metabolic process; sphingomyelin catabolic process; response to cocaine; signal transduction; positive regulation of protein amino acid dephosphorylation

Disease: Niemann-pick Disease, Type B; Niemann-pick Disease, Type A