ATP7B
- Known as:
- ATP7B
- Catalog number:
- GTX30639
- Product Quantity:
- 100 µl
- Category:
- -
- Supplier:
- ACR
- Gene target:
- ATP7B
Related genes to: ATP7B
- Gene:
- ATP7B NIH gene
- Name:
- ATPase copper transporting beta
- Previous symbol:
- WND
- Synonyms:
- -
- Chromosome:
- 13q14.3
- Locus Type:
- gene with protein product
- Date approved:
- 1986-01-01
- Date modifiied:
- 2016-02-10
Related products to: ATP7B
Related articles to: ATP7B
- Osteoporosis is a prevalent metabolic bone disorder driven by an imbalance between osteoblast-mediated bone formation and osteoclast-mediated bone resorption, and current pharmacological options remain limited by adverse effects and incomplete mechanistic targeting. Copper, an essential trace element, has long been linked to bone mineral density through population-level dietary surveys, but whether and how copper mechanistically shapes osteoblast and osteoclast function at the subcellular level has not been systematically reviewed. - Source: PubMed
Publication date: 2026/08/10
Jiang JialunLin JiawenZhou ZiyuPan HongweiZhao PengjuMa Dandan - Wilson disease is an autosomal recessive monogenic disorder caused by mutations in the copper-transporting P-type ATPase beta gene () located on human chromosome 13. This gene encodes copper-transporting P-type ATPase. This article reports a case of Wilson disease with a novel deletion variant. - Source: PubMed
Publication date: 2026/08/10
Yang LipengLi JunXie SiFeng Xinhong - Wilson disease (WD) is a rare disorder that may be missed because of atypical presentations. We present a 47-year-old asymptomatic man who was incidentally discovered to have hepatic steatosis and cirrhosis without features of the metabolic syndrome and with normal physical examination and liver function tests. Very low ceruloplasmin and high urine copper prompted evaluation for WD. He had no Kayser-Fleischer rings. Genetic testing revealed a novel homozygous splice-site variant (NM_000053.2:c.1707+2dupT p.(?)), the first reported case of homozygosity for this mutation. This case highlights the importance of considering WD in patients with unexplained hepatic steatosis and cryptogenic cirrhosis. - Source: PubMed
Publication date: 2026/08/21
Alkhateb OuwaisRockey Don CBarada Kassem - Wilson disease (WD) is a rare autosomal recessive disorder caused by mutations in , which encodes a copper transporter. Abnormal function leads to copper deposition, mainly in the liver and brain, resulting in hepatic, neurological, and psychiatric impairments. Metabolic alterations have been reported in patients with WD and in murine WD models. We performed a multiomics study in an in-depth phenotyped and multi-center cohort to establish gut microbiota perturbations and metabolic dysfunctions in WD. Metabolomics helped distinguish changes in the tricarboxylic acid cycle, amino acid metabolism, and dyslipidemia in patients with WD. Metataxonomics allowed the detection of attenuated pivotal bacterial species. Independent WD cohorts and assays validated the lipid metabolism alterations and loss of . Our results indicate a profound metabolic dysfunction in patients with WD beyond -linked copper toxicity. Pharmacological treatment appears detrimental for beneficial species, aggravating organ cross-talk in the gut-liver axis. - Source: PubMed
Publication date: 2026/08/13
Ripollés-Campos EdnaHernández-Calderón PaulaPalomino-Schätzlein MartinaJorge-Bueno LauraBono AriadnaMiralpeix AnnaSastre-Bataller IsabelGarcía-Villarreal LuisTugores AntonioMariño ZoeBerenguer MarinaBenítez-Páez AlfonsoEspinós Carmen - Wilson disease (WD) is caused due to mutations in the copper ATPase gene ATP7B, resulting in accumulation of copper and the consequent disruption of cellular redox balance through reactive oxygen species generation. Current therapies mainly depend on copper chelation to lower metal burden which sometimes also strip copper from cuproproteins and disturb key physiological copper-dependent processes. It also does not directly suppress pathological copper reactivity i.e., free radical generation, a major driver of WD progression. To overcome these limitations, we have rationally designed Gua-Cu-3, a C-symmetric guanidinium-based non-toxic molecule that can chelate labile copper without metal stripping from cuproproteins due to moderate binding affinity and it has intrinsic antioxidant activity within a single nanosheet-forming supramolecular self-assembly. Spectroscopic, calorimetric, and computational analyses revealed multivalent copper coordination (K = 95.4 μM) while radical-scavenging and hydroxyl-radical inhibition assays revealed redox-regulatory activity. In copper loaded hepatocytes, Gua-Cu-3 reduces ATP7B trafficking from trans-Golgi network, confirming effective intracellular copper sequestration. This was accompanied by a marked reduction in oxidative stress readouts, i.e., translocation of Nrf2 in nucleus and of HO-1 expression, thereby limiting lipid peroxidation and restoration of ER and mitochondrial health. Gua-Cu-3 attenuates oxidative stress in ATP7B-homolog-deficient Caenorhabditis elegans and rescues copper-induced developmental defects in zebrafish, outperforming D-penicillamine, which is currently in use for WD management. These findings establish Gua-Cu-3 with a therapeutic potential that couples-controlled copper sequestration with redox regulation and provides a framework for treating WD and other disorders associated with metal dyshomeostasis and oxidative stress. - Source: PubMed
Publication date: 2026/08/17
Pandey RaviranjanRoy Arpan NSarkar SandipDutta KrishanuBhattacharya DebosmitaJaiswar AkhileshDas SoumadipGhosh TamalGoswami KalyanPatra ChinmoyDas AmitavaGupta Arnab