ATP7B antibody Ab host: Rabbit
- Known as:
- ATP7B (anti-) Antibody production species: Rabbit
- Catalog number:
- 'C10562-1
- Product Quantity:
- 50 Вµg
- Category:
- -
- Supplier:
- ACR
- Gene target:
- ATP7B antibody host: Rabbit
Related genes to: ATP7B antibody Ab host: Rabbit
- 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
- Gene:
- PPP1R18 NIH gene
- Name:
- protein phosphatase 1 regulatory subunit 18
- Previous symbol:
- KIAA1949
- Synonyms:
- phostensin
- Chromosome:
- 6p21.33
- Locus Type:
- gene with protein product
- Date approved:
- 2004-03-02
- Date modifiied:
- 2016-10-05
Related products to: ATP7B antibody Ab host: Rabbit
Related articles to: ATP7B antibody Ab host: Rabbit
- Ceruloplasmin (Cp) is a multifunctional multicopper oxidase principally produced in the liver and, to a lesser extent, in the central nervous system. It regulates iron homeostasis and oxidative balance, Cp oxidizes ferrous iron (Fe²⁺) to ferric iron (Fe³⁺), thereby enabling its safe integration into transferrin and averting reactive oxygen species formation. Beyond its ferroxidase activity, Cp also serves as a major copper carrier in plasma and contributes to antioxidant defense mechanisms. Although, the imbalance of ceruloplasmin has been gradually recognized as a key marker in the pathogenesis of neurodegenerative disorders. It is associated with neurofibrillary tangles, amyloid plaques, tau hyperphosphorylation, oxidative stress, and mitochondrial dysfunction. In the past, Cp and neuropathology were first established when a decreased level of serum ceruloplasmin was reported as a diagnostic biomarker of Wilson's disease, a disorder characterized by copper build-up triggered by mutations in the ATP7B gene. Furthermore, some studies suggest the absence of Cp was known in aceruloplasminemia, a different neurodegenerative condition characterized by extensive deposition of iron in the brain and progressive neuronal loss. However, several studies have reported that Cp's function and expression undergo important modifications in Alzheimer's, Parkinson's, Wilson's disease, and other neurological conditions. These alterations in Cp are directly linked to disrupted metal homeostasis, alleviating oxidative stress and neuroinflammation. Thus, besides understanding the structural, metabolic, and biological roles of Cp, this review aims at explaining its possible effects on common neurological disorders. The review also focusses on the therapeutic opportunities targeting Cp-mediated pathways, primarily, focusing on how Cp dysfunction interrelates with copper metabolism, iron dysregulation, and neuroinflammatory signalling, as reported in various clinical and experimental studies. Understanding Cp mechanism may highlight novel strategies for overcoming these neurodegenerative diseases. - Source: PubMed
Publication date: 2026/07/21
Kunwar DeepikaKumar JayantAli Syed AfrozNamdeo Ajay GFlora S J S - Wilson disease (WD) is an autosomal recessive disorder of copper metabolism caused by mutations in the ATP7B gene, resulting in toxic copper accumulation in the body. Diagnosis is typically based on biochemistries, including low serum ceruloplasmin and elevated 24-h urine copper excretion, with Kayser-Fleischer (KF) rings being a supportive feature. We describe a 7-year-old girl who presented with isolated elevation of serum alanine aminotransferase (ALT), low serum ceruloplasmin, and presence of nonspecific autoantibodies. Liver biopsy revealed elevated hepatic copper content (241 μg/g dry weight), mild macrovesicular steatosis, negative copper staining and no KF rings. Targeted genetic testing identified a single pathogenic ATP7B variant, and whole exome sequencing (WES) later revealed a second variant of uncertain significance (VUS). Repeat liver biopsy showed hepatic copper content of 258 mcg/g, meeting diagnostic criteria. The patient was started on trientine, and ALT normalized within 3 months, with increased urinary copper excretion. This case underscores how WD can mimic autoimmune hepatitis and metabolic dysfunction-associated steatotic liver disease (MASLD), and how diagnosis may rely on integrating histologic findings, genetic data, and therapeutic response. - Source: PubMed
Publication date: 2026/04/03
Palan Mihir JSimpson DanaMiranda CherylHakar MelanieLin Henry C - Wilson disease (WD) is an autosomal recessive disorder of hepatic copper metabolism with varied clinical presentations. We describe a 15-year-old male referred for elevated aminotransferases, burning facial pruritis, scalp dysesthesias, and chronic bilateral lower extremity edema. Initial workup showed low-normal ceruloplasmin, hypergammaglobulinemia, positive antinuclear antibody (ANA) and anti-smooth muscle antibody, and liver biopsy compatible with autoimmune hepatitis (AIH) (simplified AIH score = 6). Lack of response to prednisone therapy for probable AIH prompted further testing. Moreover, 24-h urine copper was 1285 µg (normal 15-60 µg/24 h), ceruloplasmin was 9 mg/dL (initially 18 mg/dL), Kayser-Fleischer rings were appreciated, and elevated liver copper quantification. ATP7B gene testing revealed two heterozygous pathogenic variations in two different genes. Initiation of copper chelation therapy led to the resolution of symptoms and normalization of aminotransferases in 8 weeks. This case underscores the need for timely WD evaluation in patients with atypical presentations. - Source: PubMed
Publication date: 2026/03/25
Mosher Tierra L RHicks JohnMysore Krupa R - Serotonin transporter Slc6a4a functions as a transporter in serotonin reuptake and is tightly linked with serotonergic regulation and stress responses. However, few studies have investigated its role in copper homeostasis and organogenesis in an in vivo vertebrate model. In this study, we demonstrate that deficiency () leads to copper accumulation, retinal developmental defects, and locomotor dysfunction in zebrafish specifically. Mechanistically, deficiency is associated with reduced and copper accumulation, which lead to reactive oxygen species (ROS) and endoplasmic reticulum (ER) stress, and results in Caspase-3-mediated apoptosis and retinal degeneration. Specifically, tetrathiomolybdate (TTM), a pharmacological copper chelator, partially reduces ER stress and restores retinal defects. Additionally, ectopic expression of full-length mRNA partially restores retinal defects. These findings identify serotonin transporter Slc6a4a as a novel regulator in copper homeostasis and retinal development via the regulation of Atp7b in an in vivo vertebrate model. This study supports a mechanistic link between deficiency, copper overload, and retinal defects and highlights copper chelation as an alternative therapeutic strategy in individuals with deficiency. - Source: PubMed
Publication date: 2026/07/02
Baloch Hameed UllahJing Yuan-YuanShi Jia-HaoWang Han-FeiWu YouLiu Jing-Xia - Genotype-phenotype correlations in Wilson disease (WD) have so far been inconclusive. - Source: PubMed
Publication date: 2026/07/13
Mishra Amresh KumarSen Sarma MoinakDubey AnchalGadekar PratikMoirangthem AmitaSrivastava AnshuMathias Amrita