Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel
Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel
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DOI：
10.1093/hmg/9.17.2471
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发表时间：
2000-10-12
影响因子：
3.5
通讯作者：
Slaugenhaupt, SA
中科院分区：
文献类型：
--
作者：
Sun, M;Goldin, E;Slaugenhaupt, SA
IV型粘脂沉积症（MLIV）是一种发育性神经退行性疾病，其特征是严重的神经和眼科异常。MLIV基因ML 4（MCOLN 1）最近通过遗传连锁定位于染色体19p13.2-13.3。在这里，我们报告了一种新的瞬时受体电位阳离子通道基因的克隆，并表明该基因突变的患者的疾病，ML 4编码的蛋白质，我们建议称之为粘脂，它有6个预测的跨膜结构域，是果蝇瞬时受体电位基因家族的多囊蛋白II亚家族的成员。一个潜在的受体刺激的阳离子通道缺陷的发病机制粘脂沉积症IV的作用进行了讨论。
Mucolipidosis type IV (MLIV) is a developmental neurodegenerative disorder characterized by severe neurologic and ophthalmologic abnormalities, The MLIV gene, ML4 (MCOLN1), has recently been localized to chromosome 19p13.2-13.3 by genetic linkage. Here we report the cloning of a novel transient receptor potential cation channel gene and show that this gene is mutated in patients with the disorder, ML4 encodes a protein, which we propose to call mucolipin, which has six predicted transmembrane domains and is a member of the polycystin II subfamily of the Drosophila transient receptor potential gene family. The role of a potential receptor-stimulated cation channel defect in the pathogenesis of mucolipidosis IV is discussed.