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This gene encodes a pleckstrin homology domain-containing adapter protein. The encoded protein is localized to the plasma membrane where it specifically binds phosphatidylinositol 3,4-bisphosphate. This protein may be involved in the formation of signaling complexes in the plasma membrane. Polymorphisms in this gene are associated with age-related macular degeneration. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 5.[provided by RefSeq, Sep 2010]
[中文简述(自动翻译):]  该基因编码一个pleckstrin同源结构域的衔接蛋白。所编码的蛋白质被定位到它特异性结合磷脂3,4-二磷酸质膜。此蛋白质可能参与在质膜信令复合物的形成。在这种基因多态性与年龄相关性黄斑变性有关。选择性剪接结果在多个抄本变形。该基因的假基因是在[由RefSeq的,2010年9月提供] 5号染色体发现
PLEKHA1基因(以及对应的蛋白质)的细胞分布位置:
PLEKHA1基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Macular Degeneration, Age-Related, 1 | 0.12 | 0 | 0 | CTD_human |
Age related macular degeneration | 0.022279435 | 13 | 9 | BeFree_GAD_LHGDN |
Atherosclerosis | 0.002367032 | 1 | 0 | GAD |
Exudative age-related macular degeneration | 0.000542884 | 2 | 0 | BeFree |
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