缺陷的CHST6导致MCDC1
中文名称
通路描述
碳水化合物硫酸转移酶6（CHST6）催化将硫酸转移到非还原末端N-乙酰葡糖胺（GlcNAc）残基上的角蛋白硫酸（KS）的6位。KS在维持角膜透明度中起关键作用。CHST6缺陷（Nakazawa et al. 1984）导致未硫酸化的角蛋白沉积在细胞内和角膜基质中，导致黄斑营养不良、角膜型I（MCDC1；MIM:217800）。MCDC1是一种早期起病的眼部疾病，表现为双侧渐进性角膜混浊和角膜敏感度降低（Jones & Zimmerman 1961）。MCD可分为2种类型，基于免疫组化研究和血清分析中角蛋白硫酸的免疫反应；MCD型I，血清和角膜中角蛋白硫酸特异性抗体反应几乎完全缺失；MCD型II，角膜和血清中角蛋白硫酸特异性抗体反应正常（Yang et al. 1988）。
英文描述
Defective CHST6 causes MCDC1 Carbohydrate sulfotransferase 6 (CHST6) catalyzes the transfer of sulfate to position 6 of non-reducing ends of N-acetylglucosamine (GlcNAc) residues on keratan sulfate (KS). KS plays a central role in maintaining corneal transparency. Defective CHST6 (Nakazawa et al. 1984) results in unsulfated keratan deposited within the intracellular space and the extracellular corneal stroma leading to macular dystrophy, corneal type I (MCDC1; MIM:217800). MCDC1 is an early-onset, ocular disease characterized by bilateral, progressive corneal opacification, and reduced corneal sensitivity (Jones & Zimmerman 1961). MCD can be subdivided into 2 types on the basis of immunohistochemical studies and serum analysis for keratan sulfate; MCD type I, in which there is a virtual absence of sulfated KS-specific antibody response in the serum and cornea and MCD type II, in which the normal KS-specific antibody response is present in cornea and serum (Yang et al. 1988).
所含基因
7 个基因