{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nTMEM114 is a novel four‐exon gene identified in a familial translocation associated with congenital lamellar cataract. Disruption of its promoter region by chromosomal rearrangement leads to misregulation of TMEM114 expression in the lens, particularly in the epithelial cells and the transitional zone where fiber differentiation initiates. The gene encodes a predicted 223–amino acid protein with four transmembrane domains, showing conservation across vertebrates, and mutation screening has revealed missense variants affecting highly conserved residues in its extracellular domain, suggesting a role in maintaining lens integrity."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nSubsequent bioinformatic and molecular studies re‐evaluated TMEM114’s classification: although initially annotated as a member of the claudin family due to its membrane‐spanning topology, further analyses indicate that it is more closely related to the voltage‐dependent calcium channel gamma subunit family. Differences in cellular localization in polarized epithelial cells and the presence of N-linked glycans distinguish TMEM114 from canonical claudins. In addition, knockdown experiments in Xenopus tropicalis underscore an important role for Tmem114 in eye development, thereby reinforcing its significance during ocular morphogenesis."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nTogether, these findings support a critical function for TMEM114 in eye development, particularly in the differentiation and maintenance of the lens. Aberrant expression or mutation of this gene may disrupt essential developmental processes, contributing to cataract formation, while its evolutionary conservation highlights its broader biological importance across species."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Robyn V Jamieson, Nicola Farrar, Katrina Stewart, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Characterization of a familial t(16;22) balanced translocation associated with congenital cataract leads to identification of a novel gene, TMEM114, expressed in the lens and disrupted by the translocation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mutat (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/humu.20545"}], "href": "https://doi.org/10.1002/humu.20545"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17492639"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17492639"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Geoffrey J Maher, Emma N Hilton, Jill E Urquhart, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The cataract-associated protein TMEM114, and TMEM235, are glycosylated transmembrane proteins that are distinct from claudin family members."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "FEBS Lett (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.febslet.2011.05.060"}], "href": "https://doi.org/10.1016/j.febslet.2011.05.060"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21689651"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21689651"}]}]}]}