免疫原
Synthesized peptide derived from part region of human protein
特异性
ASM Monoclonal Antibody detects endogenous levels of protein.
组成（Formulation）
Liquid in PBS containing 50% glycerol, and 0.02% sodium azide.
纯化工艺（Immunogen）
The antibody was affinity-purified from mouse antiserum by affinity-chromatography using epitope-specific immunogen.
背景（Background）
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],
功能
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:60
基因名称（Gene Name）
SMPD1 ASM
蛋白名称
Sphingomyelin phosphodiesterase (EC 3.1.4.12) (Acid sphingomyelinase) (aSMase)
Fields
>>Sphingolipid metabolism;>>Metabolic pathways;>>Sphingolipid signaling pathway;>>Lysosome;>>Necroptosis
细胞定位
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). .
组织表达
Brain,Fibroblast,Lung,
联系我们
关注我们
您当前的位置： 
成功添加到购物车
