菜单 基因医生

这个基因编码免疫球蛋白超家族的一个大细胞外成员。秀丽隐杆线虫中的一种类似蛋白质在特定的细胞外部位形成长而细的轨迹,参与许多过程,如生殖系合胞体的稳定、机械感觉神经元到表皮的锚定和表皮中半桥粒的组织该基因突变可能与年龄相关性黄斑变性有关。[由RefSeq提供,2008年7月]
This gene encodes a large extracellular member of the immunoglobulin superfamily. A similar protein in C. elegans forms long, fine tracks at specific extracellular sites that are involved in many processes such as stabilization of the germline syncytium, anchorage of mechanosensory neurons to the epidermis, and organization of hemidesmosomes in the epidermis. Mutations in this gene may be associated with age-related macular degeneration. [provided by RefSeq, Jul 2008]

基因名:HMCN1
别名:ARMD1,FBLN6,FIBL6,FIBL-6
基因ID:83872
Chromosome:
(GRCh37)
1 Start: 185703683 End: 186160085 Strand: 
信号通路:  
HMCN1 基因突变与药物