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A novel gene, TMEM114, was annotated as a member of the claudin gene family and was subsequently associated as a cause of autosomal dominant cataract because of a translocation in its putative promoter. Our bioinformatic and molecular analyses of TMEM114, and the closely related TMEM235, demonstrate that these proteins are more closely related to members of the voltage dependent calcium channel gamma subunit family. TMEM114 and TMEM235 differed from claudins in terms of localisation in polarised epithelial cells and by the presence of N-linked glycans. By gene expression knockdown in Xenopus tropicalis we also demonstrate a role for Tmem114 in eye development.

Original publication

DOI

10.1016/j.febslet.2011.05.060

Type

Journal article

Journal

FEBS Lett

Publication Date

21/07/2011

Volume

585

Pages

2187 - 2192

Keywords

Amino Acid Sequence, Animals, Calcium Channels, Cataract, Cell Line, Claudins, Embryo, Nonmammalian, Eye, Humans, Membrane Glycoproteins, Membrane Proteins, Molecular Sequence Data, Phylogeny, Sequence Alignment, Xenopus