ATP8B1 Antibody, Biotin conjugated

1. FIC1, BSEP, and MDR3 represent crucial hepatobiliary transport proteins for bile formation. PMID: 28733223
2. ATP8B1 deficiency resulted in incomplete polarization of human peripheral blood monocyte-derived macrophages into M2c, a subset of alternatively activated macrophages. PMID: 29104077
3. Patients with confirmed ABCB11 or tight junction protein 2 gene mutations (n = 7) exhibited minimally detectable THBA proportions (0.23-2.99% of total BAs). Notably, three patients with an ATP8B1 mutation displayed elevated THBA proportions (7.51-37.26%). PMID: 28073941
4. This research provides the first characterization at the protein level of six ABCB4 variants (D243A, K435T, G535D, I490T, R545C, and S978P) previously identified in patients with inflammatory liver diseases or liver cancer. PMID: 28220208
5. The lipid flippases, ATP8B1 and ATP11A, emerge as novel components of the innate immune response, playing a critical role in attenuating the inflammatory response, potentially by mediating endotoxin-induced internalization of TLR4. PMID: 27628304
6. ATP8B1 is essential for the proper expression and function of CFTR. PMID: 27301931
7. GGT levels in patients with ATP8B1 or ABCB11 deficiency exhibited age-dependent variations. The peak GGT value was <70U/L in the 2nd~6th month of life, <60U/L in the 7th~12th month, and <50U/L beyond one year. PMID: 27050426
8. Given that hypothyroidism can be an extrahepatic feature of ATP8B1 deficiency, thyroid function should be monitored in these patients. PMID: 26382629
9. The predominant P4 ATPases identified in pure pancreatic beta cells and human and rat pancreatic islets were ATP8B1, ATP8B2, and ATP9A. Notably, ATP8B1 and CDC50A were highly concentrated in ISG. PMID: 26240149
10. Insufficient activity of Atp8b1/FIC1 increases susceptibility to bacterial pneumonia. PMID: 26050466
11. A systematic characterization of the molecular consequences of 14 ATP8B1 mutations at exon-intron boundaries associated with ATP8B1 deficiency revealed that the majority resulted in total exon skipping. PMID: 25421123
12. Data indicate that the lipid flippase (ATP8B1)-transmembrane protein 30A (CDC50A) heterodimer is essential for the apical localization of the sodium-dependent bile acid transporter (SLC10A2/ASBT) in Caco-2 cells. PMID: 25239307
13. An association between heterozygous ATP8B1 variants and chronic pancreatitis was not observed in a cohort of patients with hereditary and idiopathic chronic pancreatitis. PMID: 24260417
14. This case report suggests a potential contribution of ATP8B1 mutations to drug-induced liver injury from anabolic androgenic steroids marketed as dietary supplements. PMID: 23750872
15. This case report describes a missense ATP8B1 mutation in an adult male with progressive familial intrahepatic cholestasis type 1. PMID: 23197899
16. A novel splice-site mutation in ATP8B1 results in atypical progressive familial intrahepatic cholestasis type 1. PMID: 23033845
17. FIC1 signals to FXR via a signaling pathway involving PLD2 and PKCzeta. PMID: 23213138
18. The basal expression of ATP8B1 is driven by a housekeeping-like promoter located 71 kb upstream of the first protein coding exon, independent of bile acids and farnesoid X receptor. PMID: 23251605
19. Biochemical analysis of P4-ATPase mutations identified in patients with progressive familial intrahepatic cholestasis is presented. PMID: 23060447
20. Sequence analysis of the genes identified 27% cholestasis subjects with missense, nonsense, deletion, and splice site variants associated with disease phenotypes based on the type of mutation in the JAG1, ATP8B1, ABCB11, or ABCB4 genes. PMID: 20683201
21. Results unveil a new paradigm whereby Atp8b1 acts as a cardiolipin importer, whose capacity to remove cardiolipin from lung fluid is surpassed during inflammation or when Atp8b1 is defective. PMID: 20852622
22. This research facilitates diagnosis and elucidates the differing consequences of ATP8B1 and ABCB11 mutations in progressive familial intrahepatic cholestasis. PMID: 20447715
23. Data identified three novel mutations in BSEP, one novel mutation in MDR3, and one heterozygous mutation in ATP8B1 in PFIC patients. PMID: 20414253
24. Evidence suggests that heterozygous genetically determined alteration of ATP8B1 (encoding FIC1) might represent a risk factor for transient neonatal cholestasis. PMID: 20216097
25. ATP8B1 plays a critical role in apical membrane organization that is unrelated to its presumed aminophospholipid translocase activity. PMID: 20512993
26. ATP8B1 gene mutations play a significant role in Chinese patients with progressive intrahepatic cholestasis and low gamma-glutamyltransferase. The linked mutation P209T and IVS6+5G>T is a frequent mutation in the Chinese population. PMID: 20038848
27. Progressive familial intrahepatic cholestasis types 1 & 2 differ clinically, biochemically, and histologically at presentation and/or during the disease course. A small proportion of normal-GGT PFIC is likely not due to ATP8B1 or ABCB11 mutations. PMID: 20232290
28. Findings support the hypothesis that hepatocyte FIC1 enhances FXR signaling via a PKCzeta-dependent signaling pathway. PMID: 19809379
29. A surprisingly large proportion of ATP8B1 mutations resulted in aberrant folding and decreased expression at the plasma membrane. These effects were partially restored by treatment with 4-phenylbutyrate. PMID: 19918981
30. Three homologues were identified, with two sequenced and two RNA transcript sizes analyzed by northern blot: APT8B2, APT8B3, APT8B4. PMID: 12880872
31. Loss of familial intrahepatic cholestasis-1 leads to diminished nuclear translocation of farnesoid X receptor(FXR), potentially resulting in pathological alterations in intestinal and hepatic bile acid transporter expression. PMID: 14988830
32. Fifty-four distinct disease mutations were identified: 10 mutations predicted to disrupt splicing, 6 nonsense mutations, 11 small insertion or deletion mutations predicted to induce frameshifts, 1 large genomic deletion, 2 small inframe deletions, and 24 missense mutations. PMID: 15239083
33. Coexpression with CDC50 proteins resulted in the relocalization of ATP8B1 from the endoplasmic reticulum to the plasma membrane. In the plasma membrane, ATP8B1 functions as a flippase for phosphatidylserine. PMID: 17948906
34. FIC1 signals to FXR via PKC zeta. FIC1-related liver disease is likely associated with downstream effects of FXR on bile acid homeostasis. PMID: 18668687
35. ATP8B1 deficiency predisposes to cholestasis by promoting bile acid-induced injury in the canalicular membrane but does not directly affect FXR expression. PMID: 19027009
36. Knockdown of ATP8B1 expression leads to specific downregulation of the bile acid sensor FXR in HepG2 cells. The effect of the FXR agonist GW4064 was also investigated. PMID: 19228886
37. These results suggest that the PFIC1 mutants have a lower stimulatory effect on FXR activity and cannot interact with CDC50A, which may contribute to the development of PFIC1 features. PMID: 19381753
38. Research demonstrates that ATP8B1/Atp8b1 deficiency, both in patients and in Atp8b1(G308V/G308V) mutant mice, causes hearing loss, associated with progressive degeneration of cochlear hair cells. PMID: 19478059
39. Post-liver transplantation steatosis may be attributed to a malfunction of the ATP8B1 product. PMID: 19479804
40. PFIC1 mutations lead to the complete absence of canalicular expression, while in BRIC1/ICP residual protein is expressed in the canalicular membrane. PMID: 19731236

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HGNC: 3706

OMIM: 147480

KEGG: hsa:5205

STRING: 9606.ENSP00000283684

UniGene: Hs.216623