硼酸钠共转运体SLC4A11的突变会导致隐性先天性遗传性内皮营养不良（CHED2）。
Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2).
作者信息
Vithana Eranga N, Morgan Patricio, Sundaresan Periasamy, Ebenezer Neil D, Tan Donald T H, Mohamed Moin D, Anand Seema, Khine Khin O, Venkataraman Divya, Yong Victor H K, Salto-Tellez Manuel, Venkatraman Anandalakshmi, Guo Ke, Hemadevi Boomiraj, Srinivasan Muthiah, Prajna Venkatesh, Khine Myint, Casey Joseph R, Inglehearn Chris F, Aung Tin
机构信息
Singapore Eye Research Institute, 11 Third Hospital Avenue, Singapore 168751.
出版信息
Nat Genet. 2006 Jul;38(7):755-7. doi: 10.1038/ng1824. Epub 2006 Jun 11.
Congenital hereditary endothelial dystrophy (CHED) is a heritable, bilateral corneal dystrophy characterized by corneal opacification and nystagmus. We describe seven different mutations in the SLC4A11 gene in ten families with autosomal recessive CHED. Mutations in SLC4A11, which encodes a membrane-bound sodium-borate cotransporter, cause loss of function of the protein either by blocking its membrane targeting or nonsense-mediated decay.
先天性遗传性内皮营养不良（CHED）是一种遗传性双侧角膜营养不良，其特征为角膜混浊和眼球震颤。我们在10个常染色体隐性CHED家族中描述了SLC4A11基因的7种不同突变。编码膜结合硼酸钠共转运蛋白的SLC4A11基因发生突变，可通过阻止其膜靶向作用或无义介导的衰变导致该蛋白功能丧失。
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