ASM Polyclonal Antibody

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.,