Article
SUGP2 p.(Arg639Gln) variant is involved in the pathogenesis of hemochromatosis via the CIRBP/BMPER signaling pathway.
American journal of hematology - 1 Sept 2024
Li Yanmeng, Xu Anjian, Liu Susu, Zhang Wei, Zhou Donghu, OuYang Qin, Zi Huaduan, Zhang Bei, Zhang Ning, Geng Wei, Zhou Yiming, Duan Weijia, Wang Xiaoming, Zhao Xinyan, Ou Xiaojuan, Fan Changfa, Jia Jidong, Huang Jian
Abstract excerpt
Pathogenic variants in HFE and non-HFE genes have been identified in hemochromatosis in different patient populations, but there are still a certain number of patients with unexplained primary iron overload. We recently identified in Chinese patients a recurrent p.(Arg639Gln) variant in SURP and G-patch domain containing 2 (SUGP2), a potential mRNA splicing-related factor. However, the target gene of SUGP2 and...
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