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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

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Vithana, E.N. et al.

Vithana, Morgan, Sundaresan, Ebenezer, Tan, Mohamed, Anand, Khine, Venkataraman, Yong, Salto-Tellez, Venkatraman, Guo, Hemadevi, Srinivasan, Prajna, Khine, Casey, Inglehearn, Aung,

Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2).

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.[1]

References

Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2). Vithana, E.N., Morgan, P., Sundaresan, P., Ebenezer, N.D., Tan, D.T., Mohamed, M.D., Anand, S., Khine, K.O., Venkataraman, D., Yong, V.H., Salto-Tellez, M., Venkatraman, A., Guo, K., Hemadevi, B., Srinivasan, M., Prajna, V., Khine, M., Casey, J.R., Inglehearn, C.F., Aung, T. Nat. Genet. (2006) [Pubmed]

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