Title : The cataract-associated protein
TMEM114 , and
TMEM235 , are glycosylated transmembrane
proteins that are distinct from claudin family members
Abstract :
- 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