菜单 基因医生

这个基因编码一个doublecortin家族的成员该基因编码的蛋白质含有两个结合微管并调节微管聚合的N端双皮质蛋白结构域和两个C端大重复区，这两个区域都含有较高比例的谷氨酰胺和谷氨酸残基这种蛋白质是视网膜特异性蛋白质由于在第一个c末端重复区存在16a a重复序列，其确切长度因个体而异。16aa重复序列由高度多态的48bp重复序列编码，在正常个体中已鉴定出16aa重复序列的1-6个拷贝。这里显示的当前参考序列有一个16AA重复的副本。该蛋白与视网膜特异性蛋白RP1在影响视杆感光细胞的光敏性和外节段形态发生中起着重要的协同作用该基因突变可导致隐性黄斑营养不良（omd）。[由RefSeq提供，2010年9月]
This gene encodes a member of the doublecortin family. The protein encoded by this gene contains two N-terminal doublecortin domains, which bind microtubules and regulate microtubule polymerization, and two C-terminal large repetitive regions, both of which contain a high percentage of glutamine and glutamic acid residues. This protein is a retinal-specific protein. Its exact length varies among individuals due to the presence of a 16aa repeat in the first C-terminal repetitive region. The 16aa repeat is encoded by the highly polymorphic 48-bp repeat, and 1-6 copies of the 16aa repeat have been identified in normal individuals. The current reference sequence shown here has a single copy of the 16aa repeat. This protein and the RP1 protein, another retinal-specific protein, play essential and synergistic roles in affecting photosensitivity and outer segment morphogenesis of rod photoreceptors. Mutations in this gene cause occult macular dystrophy (OMD). [provided by RefSeq, Sep 2010]