DATASHEET
Host:
Rabbit
Target Protein:
Acid sphingomyelinase
Immunogen Range:
201-300/629
Clonality:
Polyclonal
Isotype:
IgG
Entrez Gene:
6609
Swiss Prot:
P17405
Source:
KLH conjugated synthetic peptide derived from human Acid sphingomyelinase
Purification:
Purified by Protein A.
Storage Buffer:
Aqueous buffered solution containing 0.01M TBS (pH7.4) with 1% BSA, 0.02% Proclin300 and 50% Glycerol.
Storage:
Store at -20°C. Aliquot into multiple vials to avoid repeated freeze-thaw cycles.
Background:
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.Involvement in disease: Defects in SMPD1 are the cause of Niemann-Pick disease type A (NPDA) ; also known as Niemann-Pick disease classical infantile form. It is an early-onset lysosomal storage disorder caused by failure to hydrolyze sphingomyelin to ceramide. It results in the accumulation of sphingomyelin and 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 disorder characterized 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 and pulmonary infections lead to an early death, often around the age of four. Clinical features are variable. A phenotypic continuum exists between type A (basic neurovisceral) and type B (purely visceral) forms of Niemann-Pick disease, and the intermediate types encompass a cluster of variants combining clinical features of both types A and B.
Conjugation:
APC
Excitation/ Emission:
650nm/660nm
Size:
100ul
Concentration:
1ug/ul
Applications:
WB(1:300-5000)
IF(IHC-P)(1:50-200)
IF(IHC-F)(1:50-200)
IF(ICC)(1:50-200)
64
Human
Mouse
Rat
Predicted Cross Reactive Species:
Dog
Cow
Pig
Rabbit
For research use only. Not intended for diagnostic or therapeutic use.