Article
Primary angle closure glaucoma (PACG) susceptibility gene PLEKHA7 encodes a novel Rac1/Cdc42 GAP that modulates cell migration and blood-aqueous barrier function.
Human molecular genetics - 15 Oct 2017
Lee Mei-Chin, Shei William, Chan Anita S, Chua Boon-Tin, Goh Shuang-Ru, Chong Yaan-Fun, Hilmy Maryam H, Nongpiur Monisha E, Baskaran Mani, Khor Chiea-Chuen, Aung Tin, Hunziker Walter, Vithana Eranga N
Abstract excerpt
PLEKHA7, a gene recently associated with primary angle closure glaucoma (PACG), encodes an apical junctional protein expressed in components of the blood aqueous barrier (BAB). We found that PLEKHA7 is down-regulated in lens epithelial cells and in iris tissue of PACG patients. PLEKHA7 expression also correlated with the C risk allele of the sentinel SNP rs11024102 with the risk allele carrier groups having...
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