BD-PN2852

ASM Rabbit Polyclonal Antibody

常规抗体

SMPD1 ASM

Sphingomyelin phosphodiesterase (EC 3.1.4.12) (Acid sphingomyelinase) (aSMase)

WB

Human,Mouse

1 mg/ml

Liquid in PBS containing 50% glycerol, and 0.02% New type preservative N.

6609

P17405

https://www.uniprot.org/uniprotkb/P17405/entry

Q04519

http://www.uniprot.org/uniprot/Q04519

Synthesized peptide derived from part region of human protein

ASM Polyclonal Antibody detects endogenous levels of protein.

WB 1:500-2000 ELISA 1:5000-20000

69kD

-20°C/1 year

Polyclonal, Rabbit,IgG

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],

Brain,Fibroblast,Lung,

Lysosome . Lipid droplet . Secreted . The secreted form is induced in a time- and dose-dependent by IL1B and TNF as well as stress and viral infection. This increase of the secreted form seems to be due to exocytosis of the lysosomal form and is Ca(2+)-dependent (PubMed:20807762, PubMed:22573858, PubMed:20530211). Secretion is dependent of phosphorylation at Ser-510 (PubMed:17303575). Secretion is induced by inflammatory mediators such as IL1B, IFNG or TNF as well as infection with bacteria and viruses (PubMed:12563314, PubMed:20807762). .

Sphingolipid metabolism;Lysosome;

catalytic activity:Sphingomyelin + H(2)O = N-acylsphingosine + choline phosphate.,disease:Defects in SMPD1 are the cause of Niemann-Pick disease type A (NPA) [MIM:257200]; also referred to as the classical infantile form. Niemann-Pick disease is a clinically and genetically heterogeneous recessive disorder. It is caused by the accumulation of sphingomyelin and other metabolically related lipids in the lysosomes, resulting in neurodegeneration starting from early life. Patients may show xanthomas, pigmentation, hepatosplenomegaly, lymphadenopathy and mental retardation. Niemann-Pick disease occurs more frequently among individuals of Ashkenazi Jewish ancestry than in the general population. NPA is characterized by very early onset in infancy and a rapidly progressive course leading to death by three years.,disease:Defects in SMPD1 are the cause of Niemann-Pick disease type B (NPB) [MIM:607616]; also referred to as the visceral form. NPB has little if any neurologic involvement and patients may survive into adulthood.,function:Converts sphingomyelin to ceramide. Also has phospholipase C activities toward 1,2-diacylglycerolphosphocholine and 1,2-diacylglycerolphosphoglycerol.,miscellaneous:Isoform 1 is the most abundant (90%), isoforms 2 (10%) and 3 (<1%) are only found at lower levels. Only isoform 1 is a catalytic active enzyme.,miscellaneous:There are two types of sphingomyelinases: ASM (acid), and NSM (neutral).,similarity:Belongs to the acid sphingomyelinase family.,similarity:Contains 1 saposin B-type domain.,subunit:Monomer.,

现货

The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.