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The ATP7B gene codes the ATP7B protein, which is an acronym for: ATPase activity, 7 distinct domain, and B class for second P-type ATPase (show ATP7A Proteins) copper binding pump.
Mutations in the alpha-1-antitrypsin (show SERPINA1 Proteins) and Wilson's genes may act as cofactors in the pathogenesis of fatty liver diseases.
These findings were different from previous studies in Asia. Our research established a suitable strategy for ATP7B gene testing in northern Vietnamese WD patients.
Wilson disease (WD) is an autosomal-recessive disease caused by mutations in the ATP7B gene which encodes a copper-transporting ATPase.
The role of metal-binding domains in ATP7B function and Wilson disease causing point mutations.[review]
for ATP7B mutations, the more severe impact on ATP7B protein was, the younger onset age and lower Cp level presented. The feasibility of presymptomatic DNA diagnosis and predicting clinical manifestation or severity of Wilson disease (WD) would be facilitated with identified mutations and genotype-phenotype correlation precisely revealed in the study.
Among those >800 reported mutations of the ATP7B gene missense/nonsense mutations are very rare. A874V-ATP7B protein mutant showed apparent destabilization and endoplasmic reticulum retention, and lost copper transport activity, thus likely causing Wilson disease phenotype.
Our findings imply that reduced stability and enhanced dynamics of MBD1 (show DPEP1 Proteins) or MBD6 is the origin of ATP7B dysfunction in Wilson disease patients with the G85V or G591D mutation.
single nucleotide polymorphisms in ATP7B gene is associated with copper dysmetabolism in Alzheimer's disease.
Mutation in ATP7B gene is associated with copper dysmetabolism in Wilson disease.
Copper homeostasis in the testes is closely controlled by copper-transporting ATPases ATP7A (show ATP7A Proteins) and ATP7B proteins.
This study showed that knockout of Atp7b led to altered lipid metabolism and liver steatosis in the absence of inflammation.
ATP7B is transported from the trans-Golgi network (TGN (show TG Proteins)) to the bile canaliculus by basolateral sorting and endocytosis, and microtubule-mediated transcytosis through the subapical compartment.
Data indicate that the copper-transporting ATPase gene (Atp7b) knockout mice showed a drastic, time-dependent accumulation of hepatic copper.
The aim of this study was to identify copper disturbances according to various brain compartments and further dissect the causal relationship between copper storage and neuronal damage using Atp7b(-/-) mice.
DKWSLLL sequence is essential for ATP7b sorting at the TGN (show TG Proteins), transport from the TGN (show TG Proteins) to the PM, endocytosis, and recycling to the TGN (show TG Proteins) and PM.
Ligand-activated nuclear receptors FXR/NR1H4 (show NR1H4 Proteins) and GR/NR3C1 (show NR3C1 Proteins) and nuclear receptor interacting partners are less abundant in Atp7b(-/-) hepatocyte nuclei.
By performing dynamic PET, authors obtained the first real-time measurements of 64Cu distribution in the organs or tissues of Atp7b -/- mice.
Clusterin (show CLU Proteins) and COMMD1 (show COMMD1 Proteins) independently regulate degradation of the mammalian copper ATPases ATP7A (show ATP7A Proteins) and ATP7B.
Neuroinflammatory and behavioural changes in the Atp7B mutant mouse model of Wilson's disease.
A copper-dependent ATPase hydrolysis in a native Golgi-enriched preparation from liver, was characterized.
This gene is a member of the P-type cation transport ATPase family and encodes a protein with several membrane-spanning domains, an ATPase consensus sequence, a hinge domain, a phosphorylation site, and at least 2 putative copper-binding sites. This protein functions as a monomer, exporting copper out of the cells, such as the efflux of hepatic copper into the bile. Alternate transcriptional splice variants, encoding different isoforms with distinct cellular localizations, have been characterized. Mutations in this gene have been associated with Wilson disease (WD).
ATPase, Cu(2+)- transporting, beta polypeptide
, Wilson disease-associated protein
, copper pump 2
, copper-transporting ATPase 2
, Wilson protein
, toxic milk
, wilson disease-associated protein homolog
, ATPase, Cu++ transporting, beta polypeptide (same as Wilson disease)
, PINA gene, promoter
, pineal night-specific ATPase
, ATPase 7B protein
, ATPase, Cu++ transporting, beta polypeptide (Wilson disease)
, Wilson's disease protein
, copper-transporting ATPase
, ATPase, Cu++ transporting, beta polypeptide
, ATPase, Cu(2+)-transporting, beta polypeptide
, copper-transporting ATPase 2-like