酸性神经鞘磷脂酶抗体
规格：1尘驳/1尘濒
英文名： Acid sphingomyelinase
别名： Acid sphingomyelinase; ASM; ASM_HUMAN; aSMase; NPD; Smpd1; Sphingomyelin phosphodiesterase 1 acid lysosomal; Sphingomyelin phosphodiesterase.
分子量： 64kDa
储存液：0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glyce
克隆类型：笔辞濒测肠濒辞苍补濒
亚型：滨驳骋
纯化方法：affinity purified by Protein A
**原：KLH conjugated synthetic peptide derived from human Acid sph
交叉反应：Human, Mouse, Rat, Dog, Pig, Cow, Rabbit,
细胞定位：细胞浆
酸性神经鞘磷脂酶抗体产物介绍：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. 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,酸性神经鞘磷脂酶抗体 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. The most constant sign is hepatosplenomegaly which can be associated with pulmonary symptoms. Patients remain free of neurologic manifestations酸性神经鞘磷脂酶抗体. 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. Gene ID: 6609 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。
酸性神经鞘磷脂酶抗体产物应用：WB=1:100-500 ELISA=1:500-1000 IHC-P=1:100-500 IHC-F=1:100-500 ICC=1:100-500 IF=1:100-500 （石蜡切片需做抗原修复） not yet tested in other applications. optimal dilutions/concentrations should be determined by the end user.
研究领域：细胞生物 神经生物学 信号转导 细胞凋亡
储存条件： Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
来源： Rabbit
外观： Lyophilized or Liquid