缺陷的 LFNG 导致 SCDO3
中文名称
通路描述
Fringe 家族（CAZy 家族 GT31）是哺乳动物中的糖基转移酶，包括 LFNG（疯狂边缘；MIM:602576）、MFNG（狂躁边缘；MIM:602577）和 RFNG（自由基边缘；MIM:602578）。Fringe 酶在 Golgi 体中发挥作用，通过添加β1,3 N-乙酰葡糖胺残基（GlcNAc）在已加聚的 fucosyl 肽链上延长 O-甘露糖残基（Moloney et al. 2000）。Fringe 酶通过降低 NOTCH 细胞外结构域对 JAG 配体的亲和力来延长与 NOTCH 连接的保守 O-甘露糖残基，从而调节 NOTCH 活性（Cohen et al. 1997, Johnston et al. 1997）。
脊柱 - 肋骨发育不全症（SCDs）是一组在胚胎发育过程中因体节形成（ somitogenesis）中断而出现的疾病。Notch 信号通路对于体节形成至关重要，体节是脊椎和关联肌肉的前体。Fringe 酶中一个的缺陷，如β1,3-N-乙酰葡糖胺转移酶疯狂边缘（LFNG），可导致脊柱 - 肋骨发育不全症，常染色体隐性 3 型（SCDO3，MIM:609813），这是一种与脊椎和肋骨分段缺陷相关的严重程度不一的疾病（Sparrow et al. 2006）。
脊柱 - 肋骨发育不全症（SCDs）是一组在胚胎发育过程中因体节形成（ somitogenesis）中断而出现的疾病。Notch 信号通路对于体节形成至关重要，体节是脊椎和关联肌肉的前体。Fringe 酶中一个的缺陷，如β1,3-N-乙酰葡糖胺转移酶疯狂边缘（LFNG），可导致脊柱 - 肋骨发育不全症，常染色体隐性 3 型（SCDO3，MIM:609813），这是一种与脊椎和肋骨分段缺陷相关的严重程度不一的疾病（Sparrow et al. 2006）。
英文描述
Defective LFNG causes SCDO3 The Fringe family (CAZy family GT31) of glycosyltransferases in mammals includes LFNG (lunatic fringe; MIM:602576), MFNG (manic fringe; MIM:602577) and RFNG (radical fringe; MIM:602578). Fringe enzymes function in the Golgi apparatus where they initiate the elongation of O-linked fucose on fucosylated peptides by the addition of a beta 1,3 N-acetylglucosaminyl group (GlcNAc) (Moloney et al. 2000). Fringe enzymes elongate conserved O fucosyl residues conjugated to EGF repeats of NOTCH, modulating NOTCH activity (Cohen et al. 1997, Johnston et al. 1997) by decreasing the affinity of NOTCH extracellular domain for JAG ligands (Bruckner et al. 2000).
The spondylocostal dysostoses (SCDs) are a group of disorders that arise during embryonic development by a disruption of somitogenesis. The Notch signalling pathway is essential for somitogenesis, the precursors of vertebra and associated musculature. Defects in one of the Fringe enzymes, beta-1,3-N-acetylglucosaminyltransferase lunatic fringe (LFNG), can cause spondylocostal dysostosis, autosomal recessive 3 (SCDO3, MIM:609813), a condition of variable severity associated with vertebral and rib segmentation defects (Sparrow et al. 2006).
The spondylocostal dysostoses (SCDs) are a group of disorders that arise during embryonic development by a disruption of somitogenesis. The Notch signalling pathway is essential for somitogenesis, the precursors of vertebra and associated musculature. Defects in one of the Fringe enzymes, beta-1,3-N-acetylglucosaminyltransferase lunatic fringe (LFNG), can cause spondylocostal dysostosis, autosomal recessive 3 (SCDO3, MIM:609813), a condition of variable severity associated with vertebral and rib segmentation defects (Sparrow et al. 2006).
所含基因
4 个基因