Rabbit Anti-Acid sphingomyelinase Polyclonal Antibody
Source:KLH conjugated synthetic peptide derived from human Acid sphingomyelinase:201-300/629
Purification:affinity purified by Protein A
Storage:0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol. Shipped at 4℃. Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
Background:Converts sphingomyelin to ceramide. Also has phospholipase C activities toward1,2-diacylglycerolphosphocholine and 1,2-diacylglycerolphosphoglycerol. Isoform 2 and isoform 3 havelost catalytic activity.Involvement in disease: Defects in SMPD1 are the cause of Niemann-Pick disease type A (NPDA) ; alsoknown as Niemann-Pick disease classical infantile form. It is an early-onset lysosomal storage disordercaused by failure to hydrolyze sphingomyelin to ceramide. It results in the accumulation of sphingomyelinand other metabolically related lipids in reticuloendothelial and other cell types throughout the body,leading to cell death. Niemann-Pick disease type A is a primarily neurodegenerative disordercharacterized by onset within the first year of life, mental retardation, digestive disorders, failure to thrive, major hepatosplenomegaly, and severe neurologic symptoms. The severe neurological disorders andpulmonary infections lead to an early death, often around the age of four. Clinical features are variable. Aphenotypic continuum exists between type A (basic neurovisceral) and type B (purely visceral) forms ofNiemann-Pick disease, and the intermediate types encompass a cluster of variants combining clinicalfeatures of both types A and B.
Cross Reactive Species:Human、Mouse、Rat、Dog、Pig、Cow、Rabbit