SMPD1
SMPD1，全稱為鞘磷脂磷酸二酯酶1（Sphingomyelin phosphodiesterase 1），在人體內(nèi)主要參與脂質(zhì)代謝過(guò)程。該蛋白能夠?qū)⑶柿字D(zhuǎn)化為神經(jīng)酰胺，同時(shí)具有磷脂酶C活性，在維持細(xì)胞內(nèi)脂質(zhì)穩(wěn)態(tài)中發(fā)揮著重要作用。SMPD1蛋白的缺乏會(huì)導(dǎo)致酸性鞘磷脂酶活性降低，進(jìn)而引起神經(jīng)鞘磷脂在細(xì)胞內(nèi)積累，從而引發(fā)尼曼-匹克病（NPD）等遺傳性疾病。NPD是一種罕見(jiàn)的常染色體隱性遺傳病，根據(jù)基因突變的不同，可分為A型、B型和C型。A型和B型NPD由SMPD1基因突變引起，導(dǎo)致酸性鞘磷脂酶活性缺乏，進(jìn)而引起神經(jīng)鞘磷脂在肝、脾、腎等器官積累，造成器官功能損害。C型NPD則由膽固醇代謝障礙引起，導(dǎo)致膽固醇在溶酶體內(nèi)積累，同樣造成器官功能損害。目前，針對(duì)NPD的治療方法主要包括酶替代治療、減少底物療法和基因治療等。酶替代治療通過(guò)補(bǔ)充外源性酸性鞘磷脂酶，幫助清除細(xì)胞內(nèi)積累的神經(jīng)鞘磷脂。減少底物療法通過(guò)抑制鞘糖脂的合成，降低溶酶體內(nèi)神經(jīng)鞘磷脂的積累。基因治療則通過(guò)將SMPD1基因?qū)牖颊唧w內(nèi)，恢復(fù)酸性鞘磷脂酶的正常表達(dá)。近年來(lái)，隨著對(duì)NPD發(fā)病機(jī)制的深入研究，以及基因編輯技術(shù)的快速發(fā)展，NPD的治療研究取得了顯著進(jìn)展。
熱銷產(chǎn)品
Recombinant Human Sphingomyelin phosphodiesterase (SMPD1) (CSB-MP021845HU)
驗(yàn)證數(shù)據(jù)
(Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.
Human acid sphingomyelinase, ASM ELISA Kit (CSB-E09361h)
驗(yàn)證數(shù)據(jù)
貨號(hào)：CSB-E09361h
規(guī)格：96T/48T
靈敏度：0.31 ng/mL
檢測(cè)范圍：1.25 ng/mL-80 ng/mL
These standard curves are provided for demonstration only. A standard curve should be generated for each set of samples assayed.
SMPD1 Proteins
SMPD1 Proteins for Homo sapiens (Human)
| 產(chǎn)品貨號(hào) | 產(chǎn)品名稱 | 來(lái)源 |
|---|---|---|
| CSB-YP021845HU CSB-BP021845HU CSB-EP021845HU-B |
Recombinant Human Sphingomyelin phosphodiesterase (SMPD1) | Yeast Baculovirus In Vivo Biotinylation in E.coli |
| CSB-EP021845HUa2 | Recombinant Human Sphingomyelin phosphodiesterase (SMPD1) | E.coli |
| CSB-EP021845HU | Recombinant Human Sphingomyelin phosphodiesterase (SMPD1) | E.coli |
| CSB-MP021845HU | Recombinant Human Sphingomyelin phosphodiesterase (SMPD1) | Mammalian cell |
SMPD1 Proteins for Bos taurus (Bovine)
| 產(chǎn)品貨號(hào) | 產(chǎn)品名稱 | 來(lái)源 |
|---|---|---|
| CSB-YP608564BO CSB-EP608564BO CSB-BP608564BO CSB-MP608564BO CSB-EP608564BO-B |
Recombinant Bovine Sphingomyelin phosphodiesterase (SMPD1), partial | Yeast E.coli Baculovirus Mammalian cell In Vivo Biotinylation in E.coli |
SMPD1 ELISA Kit
SMPD1 ELISA Kit for Homo sapiens (Human)
| 產(chǎn)品貨號(hào) | 產(chǎn)品名稱 | 樣本類型 | 靈敏度 |
|---|---|---|---|
| CSB-E09361h | Human acid sphingomyelinase, ASM ELISA Kit | serum, plasma, cell culture supernates, cerebrospinal fluid (CSF), urine | 0.31 ng/mL |
