Acid sphingomyelinase Antibody, AbBy Fluor-680 Conjugated
Catalogue Number: BS-6318R-BF680-BSS
| Manufacturer: | Bioss Inc |
| Type: | Polyclonal Primary Antibody - Conjugated |
| Alias: | Acid sphingomyelinase; ASM; ASM_HUMAN; aSMase; NPD; Smpd1; Sphingomyelin phosphodiesterase 1 acid lysosomal; Sphingomyelin phosphodiesterase. |
| Shipping Condition: | Blue Ice |
| Unit(s): | 100 ul |
| Host name: | Rabbit |
| Clone: | |
| Isotype: | IgG |
| Immunogen: | KLH conjugated synthetic peptide derived from human Acid sphingomyelinase |
| Application: | ICC, IF, IHC-P, WB, IHC-Fr |
Description
Description: 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.
Additional Text
Uniprot ID
P17405
Gene ID
6609
Gene Name
SMPD1
Purification
Protein A purified
Concentration
1 ug/ul
Antibody Clonality
Polyclonal
Modification
Unmodified
Storage Note
Store at -20°C. Aliquot into multiple vials to avoid repeated freeze-thaw cycles.
Excitation
679nm/702nm
BS-6318R-BF680 Datasheet
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