ABCB4 _ MDR3 Mouse IgG2b antibody Ab Supernatant
- Known as:
- ABCB4 _ MDR3 Mouse IgG2b (anti-) Antibody Supernatant
- Catalog number:
- AM32042SU-N
- Product Quantity:
- 1 ml
- Category:
- -
- Supplier:
- ACR
- Gene target:
- ABCB4 _ MDR3 Mouse IgG2b antibody Supernatant
Related genes to: ABCB4 _ MDR3 Mouse IgG2b antibody Ab Supernatant
- 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 _ MDR3 Mouse IgG2b antibody Ab Supernatant
Related articles to: ABCB4 _ MDR3 Mouse IgG2b antibody Ab Supernatant
- 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 - Progressive familial intrahepatic cholestasis type 3 (PFIC3) is caused by mutations in encoding canalicular phospholipid transporter multidrug resistance protein 3, causing advanced liver disease in childhood or early adulthood. We describe a 40-year-old woman with PFIC3 with a relatively indolent disease course. She first presented in childhood with pruritus, with episodes precipitated by estrogen exposure and pregnancy. Genetic testing confirmed compound heterozygous variants. She has well-preserved synthetic function with slow progression to cirrhosis at the age of 40 years. Immunohistochemistry demonstrated canalicular multidrug resistance protein 3 staining. This case illustrates the phenotypic heterogeneity of PFIC3 and highlights delayed disease progression. - Source: PubMed
Publication date: 2026/07/10
Yeo Yee HuiHutchings DanielleGuindi MahaMartin Paul