产品名称：Anti-Acid sphingomyelinase/FITC抗体

Anti-Acid sphingomyelinase/FITC抗体

产品编号YB6318R-FITC

英文名称Anti-Acid sphingomyelinase/FITC

中文名称FITC标记的酸性神经鞘磷脂酶抗体

别    名Acid sphingomyelinase; ASM; ASM_HUMAN; aSMase; NPD; Smpd1; Sphingomyelin phosphodiesterase 1 acid lysosomal; Sphingomyelin phosphodiesterase.

Anti-Acid sphingomyelinase/FITC抗体  

说 明 书100ul  

研究领域细胞生物  神经生物学  信号转导  细胞凋亡  

抗体来源Rabbit

克隆类型Polyclonal

交叉反应Human, Mouse, Rat, Dog, Pig, Cow, Rabbit,

产品应用ICC=1:50-200 IF=1:50-200  

not yet tested in other applications.

optimal dilutions/concentrations should be determined by the end user.

分 子 量64kDa

性    状Lyophilized or Liquid

浓    度1mg/ml

免 疫 原KLH conjugated synthetic peptide derived from human Acid sphingomyelinase

亚    型IgG

纯化方法affinity purified by Protein A

储 存 液Preservative: 15mM Sodium Azide, Constituents: 1% BSA, 0.01M PBS, pH 7.4

保存条件Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. The lyophilized antibody is stable at room temperature for at least one month and for greater than a year when kept at -20°C. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of antibody the antibody is stable for at least two weeks at 2-4 °C.

Anti-Acid sphingomyelinase/FITC抗体

产品介绍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.

Function:

Converts sphingomyelin to ceramide.Anti-Acid sphingomyelinase/FITC抗体 Also has phospholipase C activities toward 1,2-diacylglycerolphosphocholine and 1,2-diacylglycerolphosphoglycerol. Isoform 2 and isoform 3 have lost catalytic activity.

Subunit:

Monomer.

Subcellular Location:

Lysosome.

DISEASE:

Defects in SMPD1 are the cause of Niemann-Pick disease type A (NPDA) [MIM:257200]; 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.

Defects in SMPD1 are the cause of Niemann-Pick disease type B (NPDB) [MIM:607616]; also known as Niemann-Pick disease visceral form. It is a late-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. Clinical signs involve only visceral organs. Anti-Acid sphingomyelinase/FITC抗体The most constant sign is hepatosplenomegaly which can be associated with pulmonary symptoms. Patients remain free of neurologic manifestations. However, 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. In Niemann-Pick disease type B, onset of the first symptoms occurs in early childhood and patients can survive into *****hood.

Similarity:

Belongs to the acid sphingomyelinase family.

Contains 1 saposin B-type domain.

Database links:

Entrez Gene: 505097 Cow

Entrez Gene: 485334 Dog

Entrez Gene: 100720041 Guinea pig

Entrez Gene: 6609 Human

Entrez Gene: 20597 Mouse

Entrez Gene: 100353898 Rabbit

Entrez Gene: 308909 Rat

Omim: 607608 Human

SwissProt: Q0VD19 Cow

SwissProt: P17405 Human

SwissProt: Q04519 Mouse

Unigene: 498173 Human

Unigene: 4628 Mouse

Unigene: 485064 Mouse

Unigene: 18277 Rat

Important Note:

This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.

ASM酸性神经鞘磷脂酶是ASMase神经鞘磷脂酶*重要的一个亚型,是细胞膜的重要组成成分。ASM在细胞凋亡、调节肿瘤细胞生长、参与Fas信号系统传递等方面均可发挥重要作用。