ABCB4 _ MDR3 (Center)
- Known as:
- ABCB4 _ MDR3 (Center)
- Catalog number:
- AP13075PU-N
- Product Quantity:
- 0.1 mg
- Category:
- -
- Supplier:
- ACR
- Gene target:
- ABCB4 _ MDR3 (Center)
Related genes to: ABCB4 _ MDR3 (Center)
- 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 (Center)
Related articles to: ABCB4 _ MDR3 (Center)
- The increasing availability and decreasing costs of DNA sequencing have resulted in the re-grouping of rare, severe paediatric cases of progressive familial intrahepatic cholestasis (PFIC) with more frequent, later-onset cases of cholestasis (eg, intrahepatic cholestasis of pregnancy, benign recurrent intrahepatic cholestasis, low phospholipid-associated cholelithiasis) under the umbrella of genetic cholestasis. The common denominator is the presence of functional variants in the PFIC-associated genes, predominantly in , and , which cause PFIC types 1-3. Several other congenital diseases such as Alagille syndrome and alpha1-antitrypsin deficiency comprise cholestatic pruritus as frequent symptoms.With the availability of intestinal bile acid transporter inhibitors (IBATi) as new and efficacious therapeutics for pruritus, the most debilitating symptom of PFIC, it is essential to envision their usefulness for patients with later-onset cholestatic liver disease suffering from pruritus.In this review, we summarise published studies on the genetic makeup of patients with paediatric, juvenile and adult-onset cholestasis, and discuss their findings with respect to genotype-specific treatment with IBATi, ursodeoxycholic acid, or alternative drugs. The aim is to provide an overview of the genetic variants likely to be encountered in future sequencing investigations of patients with cholestatic liver diseases, and how to translate this genetic information into personalised treatment recommendations. - Source: PubMed
Publication date: 2026/06/17
Liebe RomanLammert FrankSchmidt Hartmut HKrawczyk Marcin - Intrahepatic lithiasis (IHL), defined as the presence of calculi within the intrahepatic bile ducts proximal to the hepatic confluence, has traditionally been considered rare in Western populations. However, increasing evidence suggests that Low-Phospholipid-Associated-Cholelithiasis (LPAC) syndrome, which is a genetic cholangiopathy caused by ABCB4 variants affecting biliary phospholipid secretion, represents a frequently underrecognized cause of IHL.The imaging spectrum of IHL varies according to stone composition and underlying etiology. In Eastern populations, pigment stones associated with recurrent pyogenic cholangitis prevail, whereas in Western patients, cholesterol microlithiasis characteristic of LPAC syndrome is more common. Targeted hepatobiliary ultrasound remains the cornerstone diagnostic modality, capable of detecting findings that are frequently missed on routine examination. Computed tomography (CT) and magnetic resonancecholangiopancreatography (MRCP) provide complementary information regarding stone characterization, biliary anatomy, and complications.Accurate diagnosis requires familiarity with the major mimickers of IHL, including primary sclerosing cholangitis (PSC), Caroli disease, iatrogenicbiliary strictures, and recurrent pyogenic cholangitis, as well as recognition of imaging pitfalls such as pneumobilia and biliary hamartomas.Greater awareness of LPAC syndrome and careful analysis of biliary imaging patterns may enable radiologists to reframe intrahepatic lithiasisfrom an overlooked finding into a diagnosable and treatable condition. - Source: PubMed
Publication date: 2026/06/16
Linhares Cardoso Danielde Mello Ando SabrinaMartins Tavares Ralph Rodrigo Francisco - Cholestasis has diverse causes, with genetic factors playing a key role. Diagnosis is challenging due to varied presentations and overlapping genetic conditions. Next-generation sequencing cholestasis gene panels enable faster, more accurate identification of genetic causes. This study summarizes results from more than 10,000 tests, highlighting their clinical utility. - Source: PubMed
Publication date: 2026/05/18
Hoskins Brett JPramparo TizianoGough EthanPonte AmyDutta RanaKarnsakul Wikrom - The hallmark of multidrug resistance conferred by the human ABC transporter ABCB1 (hP-gp) is the recognition and efflux of a diverse range of drugs, though the precise mechanism of polyspecificity remains unresolved. In aquatic animals such as zebrafish, Abcb4, a functional homolog of hP-gp, plays a vital role in surviving environmental toxicants. Here, we show that DrAbcb4 exhibits comparable basal and drug-stimulated ATPase activity to hP-gp. Using cryo-EM, we capture five inward-facing DrAbcb4 conformations with varying separations between its two lobes, illustrating its open-and-close motion. The range of separation exceeds that seen in published P-gp structures that appear to be conformationally restricted. This global open-and-close motion is coupled with individual helix movement, resulting in a highly fluid substrate-binding pocket. These dynamic changes, likely underlying the polyspecificity of substrate recognition, predict unconventional protein-ligand interactions that are supported by structures of DrAbcb4 bound to the P-gp inhibitors tariquidar and elacridar, and the substrate vincristine. - Source: PubMed
Publication date: 2026/05/30
Zhan JingyuHsieh Chao-MingEsser LotharLang Zabrina CMorton Abraham JRobey RobertZhou FeiAmbudkar Suresh VHuang Rick KGottesman Michael MXia Di - Cholestasis is a common pathological feature in multiple liver diseases which is characterized by toxic bile acid accumulation and liver injury. Emerging evidence indicated that total saikosaponins (TSS) from Radix Bupleuri (RB) could disrupt autophagic flux, probably exacerbating cholestatic liver injuries and warranting further investigation. - Source: PubMed
Publication date: 2026/05/14
Fan GuifangChen XiaoLi YufeiCai YajieYang YangHan JunsongHan QiSun RongLiu Runping