fig2

Figure 2. The ATP7B gene. (A) The ATP7B gene (OMIM: 606882) is located on the long arm (q-arm) of human chromosome 13, specifically in region q14.3. It consists of 21 exons, encoding a transcript of approximately 7.5 kb that translates into a 1,465 amino acid protein with an estimated molecular weight of around 165 kDa; (B) The ATP7B protein, known as ATPase copper-transporting beta, contains a phosphatase domain, a phosphorylation domain, an ATP binding domain, a metal binding domain, and eight transmembrane segments. The ideogram image shown in (A) was obtained from the Genome Data Viewer of the National Library of Medicine^[12]. There are over 500 known disease-causing mutations, with the most common European mutation being H1069Q and the most common mutation in the Chinese population being R778L. The location of these mutations is shown.