SMPD1
SMPD1,全稱為鞘磷脂磷酸二酯酶1(Sphingomyelin phosphodiesterase 1),在人體內主要參與脂質代謝過程。該蛋白能夠將鞘磷脂轉化為神經酰胺,同時具有磷脂酶C活性,在維持細胞內脂質穩態中發揮著重要作用。SMPD1蛋白的缺乏會導致酸性鞘磷脂酶活性降低,進而引起神經鞘磷脂在細胞內積累,從而引發尼曼-匹克病(NPD)等遺傳性疾病。NPD是一種罕見的常染色體隱性遺傳病,根據基因突變的不同,可分為A型、B型和C型。A型和B型NPD由SMPD1基因突變引起,導致酸性鞘磷脂酶活性缺乏,進而引起神經鞘磷脂在肝、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,導致膽固醇在溶酶體內積累,同樣造成器官功能損害。目前,針對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。酶替代治療通過補充外源性酸性鞘磷脂酶,幫助清除細胞內積累的神經鞘磷脂。減少底物療法通過抑制鞘糖脂的合成,降低溶酶體內神經鞘磷脂的積累。基因治療則通過將SMPD1基因導入患者體內,恢復酸性鞘磷脂酶的正常表達。近年來,隨著對NPD發病機制的深入研究,以及基因編輯技術的快速發展,NPD的治療研究取得了顯著進展。
熱銷產品
Recombinant Human Sphingomyelin phosphodiesterase (SMPD1) (CSB-MP021845HU)
驗證數據

(Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.
Human acid sphingomyelinase, ASM ELISA Kit (CSB-E09361h)
驗證數據

貨號:CSB-E09361h
規格:96T/48T
靈敏度:0.31 ng/mL
檢測范圍: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)
產品貨號 | 產品名稱 | 來源 |
---|---|---|
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)
產品貨號 | 產品名稱 | 來源 |
---|---|---|
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)
產品貨號 | 產品名稱 | 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 |