Introduction
The ATPase copper transporting beta gene (ATP7B) is located on chromosome 13q14.3 (1,2). The gene consists of 21 exons spanning ~80kb and encodes a 1465 amino acid protein, copper-transporting ATPase 2 (ATP7B) (1-4). The ATP7B protein contains several membrane-spanning domains, an ATPase consensus sequence, a hinge domain, a phosphorylation site, and at least two putative copper-binding sites and is localized to the trans-Golgi network where it participates in the copper removal process (1,4,5).
ATP7B is primarily expressed in the liver and kidney and is also detected at lower levels in the brain (5). A deficiency in this gene product leads to toxic accumulation of copper in the liver and other organs.
More than 1,800 unique ATP7B gene variants have been identified and are represented in this database (6).
Variant List
To see more information, click on the variant in the table. For more information on table headers, HGVS nomenclature, and Laboratory Variant Classification, please use the following links here.