ABCB4 Antibody
- Known as:
- ABCB4 Antibody
- Catalog number:
- GWB-MN930C
- Product Quantity:
- 50ug
- Category:
- -
- Supplier:
- GenWay
- Gene target:
- ABCB4 Antibody
Related genes to: ABCB4 Antibody
- Gene:
- ABCB4 NIH gene
- Name:
- ATP binding cassette subfamily B member 4
- Previous symbol:
- PGY3, MDR3
- Synonyms:
- MDR2, PFIC-3, GBD1
- Chromosome:
- 7q21.12
- Locus Type:
- gene with protein product
- Date approved:
- 1988-05-11
- Date modifiied:
- 2016-10-05
Related products to: ABCB4 Antibody
Related articles to: ABCB4 Antibody
- 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 - ATP binding cassette (ABC) transporters are active efflux proteins that move substrates against the gradient via hydrolysis of ATP, and regulate fetal metabolic homeostasis and chemical exposure. The maternal-fetal interface represents a barrier for key transporters involved in xenobiotic efflux, reverse cholesterol transport, bile acid handling, metabolism of steroid hormones and immune tolerance. We combine recent data from cryo-electron microscopy-based structure with recent single-cell transcriptomic data and studies of placenta pharmacology to explore the underlying mechanism of transporter dysfunction in preeclampsia, intrahepatic cholestasis of pregnancy, preterm birth, gestational diabetes mellitus, intrauterine growth restriction, and early miscarriage. NRF2-dependent antioxidant signaling, HIF-1α-dependent suppression of BCRP under hypoxia, cytokine-dependent downregulation by TNF-α and IL-1β, and autophagy. Key translation opportunities in clinical pharmacogenomics are highlighted, such as near-term ABCG2 Q141K genotyping for glyburide prescribing in gestational diabetes, and ABCB4 variant profiling for cholestasis risk. - Source: PubMed
Publication date: 2026/07/16
Wang Xian-HongSaeed GhazalaAfzal AliSaddozai Umair Ali KhanShao Gui-MinRehman AmnaHamid Syeda EishaPan Si-YingJi Xin-YingKhawar Muhammad Babar - Cite this article as: Adali G, Kose M, Dertsiz B, Eser M, Kirbas I, Parlak E. Familial low-phospholipid-associated cholelithiasis syndrome presenting with recurrent intrahepatic stones after cholecystectomy with a heterozygous ABCB4 variant. Turk J Gastroenterol. 2026;37(8):915-917. - Source: PubMed
Publication date: 2026/07/20
Adali GupseKose MustafahanDertsiz BerkayEser MetinKirbas IsmailParlak Erkan - Intrahepatic cholestasis of pregnancy (ICP) affects 0.5-5.6 % of pregnancies and involves bile acid transport defects (ABCB11, ABCB4, ATP8B1). BAAT mutations classically cause neonatal familial hypercholanemia type 3 (FHCA3), with five previously identified pathogenic variants in the catalytic domains. We report a rare adult-onset homozygous BAAT missense mutation (c.1203G>T; p.Glu401Asp) in a 41-year-old Indian woman with third-trimester ICP, postpartum-persistent hypercholanemia, and severe hypertriglyceridemia. This novel BAAT substitution occurs at codon 401 (C-terminal, non-catalytic), yielding conflicting predictions (CADD: 22.5 pathogenic vs. REVEL: 0.211 benign). However, classified as a Variant of Uncertain Significance, its homozygosity and phenotypic correlation support plausibility, pending family segregation, bile acid profiling, or functional assays. Proposedly unconjugated primary bile acids impair ileal FXR activation, thereby disrupting FGF19-SHP-mediated repression of SREBP-1c lipogenesis, a process compounded by insulin resistance. This case represents a rare adult BAAT-ICP association and BAAT-related FXR-SREBP dysregulation, expanding the low-GGT cholestasis spectrum per EASL guidelines. Glycocholic acid and FXR agonists may offer targeted therapies. - Source: PubMed
Publication date: 2026/07/06
Agrawal DhirajAvula Ramesh RSonthalia ShraddhaKamath SwethaReddy Guru N - Progressive familial intrahepatic cholestasis (PFIC) is classically caused by biallelic pathogenic variants, yet monoallelic variants of uncertain significance (VUS) in PFIC-associated genes are increasingly identified in children with cholestasis, creating diagnostic uncertainty. We conducted a multicenter cohort study of children with liver disease and/or cholestasis harboring monoallelic VUS in ATP8B1, ABCB11, ABCB4, TJP2, or NR1H4. Clinical and longitudinal data were analyzed, and variant frequencies were compared with population data from gnomAD. Twenty-six children with 37 monoallelic PFIC-gene VUS met inclusion criteria, and multigenic variant burden was common (73.1%). PFIC-like biochemical patterns were observed in 42.3% but were frequently transient, and no patient met criteria for monogenic PFIC on longitudinal follow-up. Severe liver outcomes, including transplantation in two patients, occurred in a subset of patients with ABCB4 and/or ATP8B1 VUS and multigenic burden, along with competing clinical factors. Among 22 variants with population data, 11 (50%) demonstrated significant enrichment after multiple-testing correction, most commonly involving ABCB4. These findings suggest that monoallelic PFIC-associated variants currently classified as VUS are unlikely to represent monogenic disease drivers in isolation and may instead contribute within multigenic or susceptibility-based contexts. Population-level enrichment, particularly involving ABCB4, further supports careful phenotype-anchored, longitudinal interpretation in pediatric liver disease. - Source: PubMed
Publication date: 2026/07/20
Hoskins Brett JPramparo TizianoJarasvaraparn ChaowapongWilsey Michael JSlowik VoytekKunam LakshmiStoll Janis MQuiros-Tejeira Ruben ELam SimonKarnsakul Wikrom