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Article

[Progress in molecular mechanism of hepatolenticular degeneration induced by ATP7B gene mutation].

Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology - 20 Feb 2020

Jia S Y, Zhou D H, Ou X J, Huang J

Abstract excerpt

Hepatolenticular degeneration, also named Wilson disease, is an autosomal recessive genetic disease that characterized by copper metabolism disorder. WD mainly caused by the dysfunction of mutant ATP7B variants. This review summaries the mechanisms that different mutations affect the function of ATP7B, including inducing the mislocalization of mutant proteins, affecting the interactions between proteins or...

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Identifiers

PMID: 32164076
DOI: 10.3760/cma.j.issn.1007-3418.2020.02.019
PMCID: PMC12769297

Genes

ATP7B

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