ATP8B1
- Known as:
- ATP8B1
- Catalog number:
- 002259A
- Product Quantity:
- 250ul
- Category:
- -
- Supplier:
- ABM
- Gene target:
- ATP8B1
Related genes to: ATP8B1
- Gene:
- ATP8B1 NIH gene
- Name:
- ATPase phospholipid transporting 8B1
- Previous symbol:
- FIC1, BRIC, PFIC1
- Synonyms:
- ATPIC, PFIC
- Chromosome:
- 18q21.31
- Locus Type:
- gene with protein product
- Date approved:
- 1996-12-17
- Date modifiied:
- 2019-04-23
Related products to: ATP8B1
Related articles to: ATP8B1
- (MP) infection can lead to various extrapulmonary complications, including myocardial injury (MI). However, the expression levels of ATPase phospholipid transporting 8B1 (ATP8B1) in MP-infected individuals with MI and its potential therapeutic role remain elusive. The aim of the study is to evaluate ATP8B1 as a therapeutic target for MP-induced MI. - Source: PubMed
Publication date: 2026/02/03
Li XiaoyaMi YanruLu QinmeiLi Congzhe - Progressive familial intrahepatic cholestasis type 1 (PFIC1) is a rare genetic disorder caused by variants in ATP8B1. The aim of this study was to characterize the clinical and genetic spectrum of PFIC1 and to investigate genotype-phenotype correlations in affected individuals. Clinical manifestations and laboratory findings from 15 newly identified individuals with PFIC1, together with data from 70 previously reported cases retrieved from the PubMed and CNKI databases, were collected and analyzed. A total of 10 novel pathogenic or likely pathogenic ATP8B1 variants were identified. Clinical manifestations included cholestatic jaundice, pruritus, hepatomegaly, diarrhea, deafness, and pancreatitis, accompanied by elevated serum transaminase, total/direct bilirubin, and total bile acid levels, with normal or low gamma-glutamyl transpeptidase (GGT) levels. Most patients with PFIC1 (71.2%, 42/59) showed an insufficient response to oral ursodeoxycholic acid (UDCA). Among patients who underwent liver transplantation (LT), severe postoperative complications, including hepatic steatosis (93.3%, 14/15) and intractable diarrhea (86.7%, 13/15), were common. In contrast, LT combined with surgical biliary diversion (SBD) reduced the incidence of these complications to 44.4% (4/9) for both outcomes. At the last follow-up, unfavorable clinical outcomes were observed in 64.7% (44/68) of cases. Compared with individuals carrying non-biallelic null ATP8B1 variants, those with biallelic null variants had an earlier age at onset, a lower response rate to UDCA, and reduced LT-free survival. Conclusion: This study described 15 new cases of PFIC1 carrying 10 novel ATP8B1 variants. PFIC1 involved multisystem manifestations, with normal-GGT cholestatic hepatitis representing a characteristic feature. The therapeutic efficacy of UDCA remained limited, and LT alone was associated with substantial postoperative complications, whereas combined LT and SBD appeared to reduce complication rates. Individuals with biallelic null ATP8B1 variants demonstrated earlier disease onset and poorer therapeutic and clinical outcomes. - Source: PubMed
Publication date: 2026/09/18
Lin HuiPeng Xiao-RongQin Xiao-MeiZhang Hai-MingPan XiangLin Wei-XiaChen RongZhu Shi-ShuXiong FuHuang Xiao-LingZhu Zhi-JunOuyang Wen-XianXu Hong-MeiSong Yuan-Zong - Progressive familial intrahepatic cholestasis (PFIC) is a group of autosomal recessive disorders characterized by impaired bile formation and secretion, frequently progressing to cirrhosis and end-stage liver disease. This study characterized the genotypic and phenotypic spectrum of PFIC in a pediatric cohort. - Source: PubMed
Publication date: 2026/09/17
Abdel Gawad ManalMahfouz AmlAbdel-Hadi MonaMastor HebaElbanna Basant - Progressive Familial Intrahepatic Cholestasis (PFIC) is a rare liver disorder that, although typically present in childhood, can also occur in adulthood. Early diagnosis is crucial for appropriate clinical management, prognostic assessment, and therapeutic decision-making; however, it remains challenging due to phenotypic variability and the frequent identification of genetic variants of uncertain significance (VUS). Advances in next-generation sequencing (NGS) and whole-exome sequencing (WES) have improved the detection of disease-associated variants, revealing that the same genetic variants-often in a heterozygous state-may lead to adult-onset cholestatic disease, with milder or atypical presentations, while still conferring a significant risk of progressive liver injury and related complications. To assess the diagnostic yield and clinical utility of NGS panels and WES in adults with suspected PFIC or unexplained cholestatic liver disease, focusing on variant interpretation, emerging disease-associated genes, and clinical significance of VUS. A literature review was conducted to assess molecular diagnostics in adult cryptogenic cholestasis, with a focus on studies employing targeted NGS panels and WES. Selected studies were examined for diagnostic yield, variant classification, interpretive challenges, including VUS, and integration with clinical data. Data on patient demographics, sequencing techniques, and variant interpretation strategies were extracted to evaluate the current capabilities and limitations of genomic testing. From an initial search of 211 publications, 15 studies met the inclusion criteria, comprising five large adult cohorts and ten single-patient or trio-based reports. Across 72 patients, sequencing technologies identified 75 pathogenic or likely pathogenic variants, predominantly missense mutations, demonstrating high genetic heterogeneity. The most implicated genes included , , , , and , with diagnostic yields ranging from 13.2% in large heterogeneous cohorts to substantially higher rates in carefully selected individual cases. VUS were identified in up to 67% of cases, highlighting the need for multidisciplinary interpretation integrating clinical, biochemical, and genetic data. Emerging evidence also implicated ciliopathy-associated genes such as , , , , and , expanding the genetic spectrum of adult cholestasis. Clinically, presentations ranged from mild biochemical abnormalities to progressive cholestasis, with pruritus being a common feature across studies. Comprehensive genetic testing significantly enhances diagnostic accuracy, informs prognosis, and guides individualized management in adults with cryptogenic cholestasis. Emerging evidence suggests that ciliopathy-associated genes may contribute to the genetic architecture of adult cholestatic disorders, further expanding the spectrum of disease-associated genes. However, the high prevalence of VUS remains a major challenge, highlighting the need for functional studies, longitudinal follow-up, and improved variant interpretation frameworks. As genomic technologies and analytical approaches continue to evolve, genetic testing is expected to play an increasingly central role in precision hepatology. - Source: PubMed
Publication date: 2026/07/25
Conti AmaliaGabrielli FilippoFerrari SimonaVaisfeld AlessandroDe Masi ClaudiaAzzaroli FrancescoPiscaglia FabioVitale Giovanni - P4-ATPases are lipid flippases that maintain membrane phospholipid asymmetry by transporting specific phospholipids from the exoplasmic to the cytosolic leaflet, an essential process for membrane integrity, trafficking and signaling. Several P4-ATPases are tightly regulated by autoinhibitory N- and C-terminal extensions, yet the molecular basis of this regulation remains incompletely understood. Here, we investigated the autoinhibition mechanism of the human flippase ATP8B1 using trans-inhibition assays with synthetic peptides derived from its C-terminal tail. Using purified C-terminally truncated ATP8B1-CDC50A, we systematically assessed the inhibitory properties of peptides corresponding to distinct segments of the C-terminus. We show that the distal disordered region of the C-terminal tail significantly contributes to autoinhibition, likely through transient interactions with the cytosolic domains. We further identify a critical interaction between R1228 in the C-terminal tail and E219 in the A-domain, whose disruption markedly reduces inhibitory potency. In addition, we demonstrate that a minimal peptide spanning residues 1216-1228, which bridges the A- and N-domains in the autoinhibited conformation, is sufficient to inhibit ATPase activity. Together, these results refine the molecular description of ATP8B1 autoinhibition, open the way for structure-based activation strategies and provide insight into conserved regulatory mechanisms among P4-ATPases. - Source: PubMed
Publication date: 2026/07/28
Laursen Michelle JuknaviciuteRoth MathildeNissen PoulStock CharlottDieudonné Thibaud