ATP7B antibody
- Known as:
- ATP7B (anti-)
- Catalog number:
- orb10160
- Product Quantity:
- EUR
- Category:
- -
- Supplier:
- Biorbyt biorb
- Gene target:
- ATP7B antibody
Related genes to: ATP7B antibody
- 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 antibody
Related articles to: ATP7B antibody
- Wilson disease (WD) is characterized by hepatic injury caused by copper accumulation; however, the underlying molecular mechanisms remain incompletely understood. This study aims to investigate whether copper overload induces pyroptosis in WD and to elucidate the role of USP9X-mediated JAK1 deubiquitination in this process. - Source: PubMed
Publication date: 2026/06/18
Zi HuaduanTang HengchengYang XiaoxiLi XiaojinLi YanmengXu AnjianOuyang QinChen SisiHe PingpingLi YanlingZhu QianyuZhang BeiZhang WeiOu XiaojuanSun LiyingZhou DonghuHuang Jian - In recent years, human whole genome sequencing projects in China and abroad have made accidental discoveries in different populations. However, the genetic variants present in the multiethnic population of the southwest region of China remain unclear. The purpose of this study is to elucidate the frequency distribution of different types of genetic variations, particularly pathogenic variants, in ACMG v3.2 list genes among 11 ethnic minority populations from the Guizhou Multi-ethnic Genome Database (GMGD). We collected whole-genome sequencing data from 476 individuals across these 11 GMGD populations and classified the effects of the identified variants according to the ACMG/AMP guideline by GeneBe tools [1]. A total of 521 variants were identified after variant filter, of which 1.5%(8/521) of genetic variants were classified as high confidence pathogenic or potentially pathogenic. The most common P/LP variants were ATP7B: rs762866453, ATP7B: rs191312027 and we observed significant population differences. The three novel variants (ATP7B: rs778732681, PALB2 :rs876660147, GAA: rs765718882) exhibited low to moderate allele frequencies (0.106%-0.42%) in the GMGD population but were undetected in mainstream databases. This study provides information on pathogenic/likely pathogenic variations and their frequencies for 73 disease-related genes across 11 ethnic groups, contributing valuable insights for the advancement of genomic medicine. To the best of our knowledge, this represents the first analysis of clinically incidental genetic variants among these 11 ethnic groups and offers further insights into interethnic genetic differences. - Source: PubMed
Publication date: 2026/06/13
Luo YunyanLei ChangguiChi AnminLuo FeiWang ChanjuanZhang TingXiao YanxiangShan KerenQi XiaolanJin XinZeng ShuangHe Yan - To investigate the mechanism by which polydatin ameliorates neurological damage in Wilson disease (WD) based on bioinformatics analysis and experimental validation. - Source: PubMed
Publication date: 2026/06/08
Wang NiWu KaijianWei WangyunZhang WanqingFANGMingsheng Zhang Jing - Wilson disease is rarely reported among African children. Wilson disease is due to a mutation in ATP7B on an autosomal recessive pattern, which causes defective copper excretion and copper accumulation in tissues such as liver and brain. To the best of our knowledge, this is the second reported case of Wilson disease from Sudan, and it highlights the challenges of diagnosis and management in low-resource settings. Our report strengthens the need for awareness and accountability of rare diseases in public health systems, especially when access to diagnostics and special therapies is limited. A 13-year-old male of Sudanese descent with consanguineous parents presented with progressive generalized edema, jaundice, and ascites. On physical examination, Kayser-Fleischer rings were observed. Laboratory tests revealed hypoalbuminemia, thrombocytopenia, and a family history of sibling deaths. Additionally, there was a difference in neuropsychiatric status. MRI of the brain demonstrated hyperintensities in the basal ganglia, known as the "giant panda sign." A diagnosis of Wilson disease was made, with a Leipzig score of 7/10, based on low serum copper, hemolytic anemia, and the family history. Initial therapy with D-penicillamine and then zinc was administered, but it failed to prevent neurological decline. This deterioration occurred between visits. Moreover, the only alternate therapy, trientine, in all its forms, was not available at the time. Wilson disease, thought rare, occurs in African children but remains underdiagnosed due to resource constraints. This case highlights diagnostic challenges, the critical role of clinical suspicion, and urgent need for accessible diagnostic and affordable therapies in low-resource settings to improve outcome. - Source: PubMed
Publication date: 2026/06/04
Mohammed Amjed Abdu AliHabeebAllah Anaheed Alzubair MohammedMohammed Sudad Salahaldeen HassanAlmamoon Aprar Kamal Mohammed AliAhmed Mehad Mortada BadrAldenAref Arafa Mubarak AbotalibBashir Fatima Bashir OmerAltegani Tarig Mohamed NourallahAhmed Ahmed Alshafei Elmahi - Whole-exome sequencing (WES) has revolutionized the diagnostics of hereditary diseases, yet its efficacy varies across populations. Data on the genetic architecture of rare hereditary disorders in many Russian regions, including the ethnically diverse Khanty-Mansi Autonomous Okrug (Yugra) are scarce. The aim of this study was to evaluate the diagnostic yield of WES for identifying genetic variants associated with hereditary disorders in this ethnically heterogeneous population. The study involved 286 probands with suspected hereditary disorders observed by regional geneticists in the years 2021-2024. WES was performed on the DNBSEQ-G50 platform (MGI, China). Bioinformatic analysis included variant calling and annotation using population databases and pathogenicity prediction tools. Identified variants were classified according to ACMG/Russian Medical Genetics Society guidelines and correlated with clinical phenotypes. Molecular genetic diagnoses were categorized as definitive, partial, potential (based on variants of unknown significance), or unknown. The examined cohort was predominantly pediatric, the most common clinical indications were neurological, dysmorphic, and metabolic disorders. Definitive molecular diagnoses were established in 24.8 % of patients. Inclusion of potential diagnoses increased the total yield to 48.6 %. Diagnostic efficacy varied significantly among disease categories ranging from 58.3 % for renal disorders to 0 % for neurodevelopmental disorders. A total of 420 unique variants were analyzed, and missense changes were the most frequent among clinically significant findings. The most commonly implicated genes were ATP7B, GJB2, ABCA4, and GALT. The study results indicate that WES is an effective first-tier molecular tool for a wide range of suspected hereditary diseases in the Yugra population, with a diagnostic yield comparable to similar studies abroad. The findings support the utility of WES in diverse populations and highlight the potential for increasing yield through trio-WES and periodic data reanalysis. - Source: PubMed
Donnikov M YuSuchko P AMorozkina A VKolbasin L NPopova E APapanov S IKoshevaya Yu SDanilov L GEismont Yu AGlotov O SKovalenko L V