GPC3

细胞表面硫酸乙酰肝素蛋白多糖由一个膜相关蛋白核和一系列硫酸乙酰肝素链所取代。glypican相关的完整膜蛋白多糖家族(grips)的成员包含一个通过糖基磷脂酰肌醇连接锚定在细胞质膜上的核心蛋白。这些蛋白可能在控制细胞分裂和生长调节中发挥作用。该基因编码的蛋白能结合并抑制cd26的二肽基肽酶活性,并能诱导某些细胞类型的凋亡。该基因的缺失突变与辛普森-戈拉比-贝梅尔综合征(simpson-golabi-behmel syndrome,又称辛普森畸形综合征)有关。选择性剪接导致多个转录变体。[由RefSeq提供,2009年9月]
Cell surface heparan sulfate proteoglycans are composed of a membrane-associated protein core substituted with a variable number of heparan sulfate chains. Members of the glypican-related integral membrane proteoglycan family (GRIPS) contain a core protein anchored to the cytoplasmic membrane via a glycosyl phosphatidylinositol linkage. These proteins may play a role in the control of cell division and growth regulation. The protein encoded by this gene can bind to and inhibit the dipeptidyl peptidase activity of CD26, and it can induce apoptosis in certain cell types. Deletion mutations in this gene are associated with Simpson-Golabi-Behmel syndrome, also known as Simpson dysmorphia syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]

别名

SGB,DGSX,MXR7,SDYS,SGBS,OCI-5,SGBS1,GTR2-2

基因id

Chromosome:X Start: 132669773 End: 133119673 Strand: 

药物

突变与药物

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