ATP7B
- Known as:
- ATP7B
- Catalog number:
- NB100-360B
- Product Quantity:
- 0.1 ml
- 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
- Wilson disease is classically defined as an autosomal recessive disorder of copper metabolism that leads to neurological and hepatic dysfunction. It is one of the most prevalent genetic liver disorders caused by pathogenic mutations in the gene, leading to defective copper transport and toxic accumulation in tissues. Without timely diagnosis and appropriate treatment, Wilson disease can progress to life-threatening hepatic failure and severe neurological impairment, ultimately resulting in death. Clinically, Wilson disease exhibits marked phenotypic heterogeneity, presenting with a wide spectrum of hepatic, neurological, and psychiatric symptoms. Differential diagnosis can be complicated by other inherited metabolic disorders with overlapping clinical and biochemical features, collectively referred to as Wilson's mimicry disease. These disorders may contribute to diagnostic uncertainty, potentially delaying the identification of Wilson disease and timely initiation of effective therapy. In this review, we collated pertinent information on Wilson disease and its related differential diagnoses based on a broad review of the scientific literature. Our findings highlight disorders that closely mimic Wilson disease clinically and biochemically, outlining their distinguishing clinical, biochemical, and genetic features, which can be differentiated through specific diagnostic markers and genetic testing. Enhancing awareness and understanding of these entities is essential to improve diagnostic accuracy in pediatric neurology and hepatology. - Source: PubMed
Publication date: 2026/03/10
Hashemi Seyyed-SalehGholoobi AidaNaghipoor KarimHamzehloei Tayebeh - Gliomas remain highly aggressive and treatment-resistant brain tumors, necessitating novel therapeutic strategies. Recent studies have identified cuproptosis, a copper-dependent form of regulated cell death, as a potential vulnerability in cancer. However, the molecular mechanisms regulating cuproptosis in gliomas remain poorly understood. Here, we investigated the role of LAMC1 (Laminin γ1 chain), a laminin subunit implicated in glioma progression, in modulating cuproptosis sensitivity. Multi-dataset bioinformatic analysis revealed LAMC1 as a prognostic biomarker associated with copper homeostasis pathways-high LAMC1 expression correlated with poor survival and effected key cuproptosis-related genes, including FDX1 and LIAS. Functional studies showed that LAMC1 overexpression attenuates copper-induced cytotoxicity, reduces intracellular copper accumulation, and alleviates oxidative stress, whereas LAMC1 knockdown enhances cuproptosis sensitivity, increases ROS production, and disrupts redox balance. Mechanistically, LAMC1 regulates key cuproptosis effectors (FDX1, LIAS, DLAT) and copper transporters (SLC31A1, ATP7B), and modulates the PI3K/AKT signaling pathway under copper stress. The copper chelator TTM reverses the enhanced cuproptosis phenotype induced by LAMC1 knockdown, restoring cell viability and clonogenic capacity while reducing ROS and Cu accumulation and normalizing cuproptosis-related gene expression. These findings establish LAMC1 as a critical regulator of cuproptosis resistance in gliomas, highlighting its potential as a therapeutic target to enhance copper-mediated cytotoxicity in glioma treatment. - Source: PubMed
Publication date: 2026/08/28
Wu ShukaiPan ZhigangHuang JinzhongChen JianiWang FanWang Jiayin - Wilson's disease (WD) is an autosomal recessive disorder of copper metabolism that frequently involves the central nervous system and may be associated with secondary sleep disturbances. Excessive daytime sleepiness (EDS) in WD is typically attributed to metabolic or structural brain injury rather than primary sleep-wake dysregulation. Narcolepsy type 1 (NT1), caused by autoimmune loss of hypothalamic hypocretin neurons, is a distinct primary sleep disorder. The coexistence of WD and NT1 has not previously been reported. - Source: PubMed
Publication date: 2026/08/28
Xu ZhenjingWang YanxinXu ChunshengHou ZhifengYang Wenming - Autoantibodies in the plasma demonstrate potential as biomarkers for early detection of breast cancer. Copper transport proteins ATP7A, ATP7B and COPT1, are represent potential diagnostic biomarkers. This study aims to evaluate the diagnostic value of plasma autoantibodies targeting ATP7A, ATP7B and COPT1 in breast cancer. The plasma expression levels of anti-ATP7A/ATP7B/COPT1 autoantibodies were detected in the cohort with 229 patients with breast cancer (BC), 214 patients with benign breast tumor (BBN), and 169 normal controls (NC) using the ELISA method. The expression levels of three autoantibodies were significantly lower in BC compared to BBN and NC groups. The combination of anti-ATP7A and anti-COPT1 could improve the diagnostic efficacy with an increased AUC value (AUC = 0.844, 95% CI, 0.764-0.925) in patients aged ≤50 years with early HER2+ breast cancer. This study demonstrates the clinical value of these three autoantibodies in the detection of BC, suggesting their potential as diagnostic biomarkers for BC. - Source: PubMed
Publication date: 2026/08/27
Yu PeiqiNie TingzunLiu AichenZhang LuluSun WenkeLiang YihaoQu YunhuiDai LipingLiu Jingjing - 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