Schröder M, Schnabel D, Suzuki K, Sandhoff K
Institut für Organische Chemie und Biochemie Bonn, Germany.
FEBS Lett. 1991 Sep 23;290(1-2):1-3. doi: 10.1016/0014-5793(91)81211-p.
GM2-gangliosidoses are neurological disorders caused by a genetic deficiency of either the beta-hexosaminidase A or the GM2 activator, a glycolipid binding protein. In a patient with an immunologically proven GM2 activator protein deficiency, A T412----C transition (counted from A of the initiation codon) was found in the coding sequence, which results in the substitution of Arg for the normal Cys107 in the mature GM2 activator protein. The remainder of the coding sequence remained entirely normal.
GM2神经节苷脂沉积症是一种神经疾病，由β-己糖胺酶A或GM2激活蛋白（一种糖脂结合蛋白）的基因缺陷引起。在一名经免疫证实存在GM2激活蛋白缺陷的患者中，在编码序列中发现了一个T412→C转换（从起始密码子的A开始计数），这导致成熟GM2激活蛋白中正常的半胱氨酸107被精氨酸取代。编码序列的其余部分完全正常。
