Article
Genetic Analysis of Choroideremia-Related Rab Escort Proteins.
International journal of molecular sciences - 11 Apr 2025
Xing Zhuo, Wu Fuguo, Cortes-Gomez Eduardo, Pao Annie, Gao Lingqiu, Douglas Avrium, Li Yichen, Spernyak Joseph A, Wong G William, Singh Prashant K, Wang Jianmin, Liu Song, Thanavala Yasmin, MacDonald Ian M, Mu Xiuqian, Yu Y Eugene
Abstract excerpt
Choroideremia is a rare X-linked recessive retinal disorder characterized by progressive vision loss caused by retinal degeneration resulting from mutations in the CHM gene, which encodes Rab escort protein 1 (REP-1). In humans and mice, the Rab escort protein (REP) family consists of two members, REP-1 and REP-2, with REP-2 hypothesized to compensate for REP-1 deficiency in tissues outside the eye in...
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