DOSEN PROFIL LENGKAP

protein (WND), also known as ATP7B protein, is a copper-transporting P-type ATPase which is encoded by the ATP7B gene. The ATP7B protein is located in the...

Wilson's disease is caused by a mutation in the Wilson disease protein (ATP7B) gene. This protein transports excess copper into bile, where it is excreted...

disease is an autosomal-recessive gene disorder whereby an alteration of the ATP7B gene results in an inability to properly excrete copper from the body. Copper...

homeostasis as it delivers copper from the cytosol to transporters ATP7A and ATP7B. Homologous proteins are found in a wide variety of eukaryotes, including...

delivered via adeno-associated virus, that restores a functional version of the ATP7B gene. Wilson disease is a rare genetic disease that results in high levels...

or buffering of copper strictly regulated. The 2 related genes ATP7A and ATP7B, responsible for the human diseases Menkes syndrome and Wilson disease,...

syndrome recessive Williams syndrome 7q11.23 dominant 1:10,000 Wilson disease ATP7B recessive 1:30,000 Woodhouse–Sakati syndrome C2ORF37 (2q22.3–q35) recessive...

ATP6V0B, ATP6V0C, ATP6V0D1, ATP6V0D2, ATP6V0E Cu2+ transporting: ATP7A, ATP7B Class I, type 8: ATP8A1, ATP8B1, ATP8B2, ATP8B3, ATP8B4 Class II, type 9:...

Normal absorption and distribution of copper. Cu = copper, CP = ceruloplasmin, green = ATP7B carrying copper....

N-terminal domain from the Wilson disease putative Cu-transporting ATPase (ATP7B)". Journal of Biological Chemistry. 272 (52): 33279–33282. doi:10.1074/jbc...

oriented towards the cytosol (see picture). It is highly homologous to protein ATP7B. ATP7A contains three major functional domains: Eight transmembrane segments...

the right. ARGLU1: encoding protein Arginine and glutamate-rich protein 1 ATP7B: ATPase, Cu++ transporting, beta polypeptide (Wilson disease) BRCA2: breast...

ATPases that are distinct for each disease. Both ATPases, ATP7A (Menkes) and ATP7B (Wilson's) are located in the trans-Golgi network and are responsible for...

disease ATP7A Menkes kinky hair syndrome Occipital horn syndrome Cutis laxa ATP7B Wilson's disease BHD Birt–Hogg–Dubé syndrome BLOCK153 BLOCK153 Hermansky–Pudlak...

antisense deoxynucleotides against ATP7B mRNA and treatment of an ovarian cancer cell line shows that inhibition of ATP7B increases sensitivity of the cells...

the lumen of the ER-Golgi network is absent in hepatocytes due to absent ATP7B (Wilson's disease) Lower-than-normal ceruloplasmin levels may indicate the...

recessive genetic disorder caused by a mutation in the copper-transport gene ATP7B, leading to excess copper build-up. About half of those affected have neurological...

copper in the body. The condition is caused by a genetic mutation in the ATP7B gene which is involved in the transport of copper within the human body...

Q96LB4 1286 ATP6V1H HGNC:18303; Q9UI12 1287 ATP7A HGNC:869; Q04656 1288 ATP7B HGNC:870; P35670 1289 ATP8A1 HGNC:13531; Q9Y2Q0 1290 ATP8A2 HGNC:13533;...

ATPases or P-type ATPase-like proteins include: P1B: Cu++ ATPase: ATP7A, ATP7B P2A: SERCA Ca2+ ATPase: ATP2A1, ATP2A2, ATP2A3 P2A: secretory pathway Ca2+-ATPase:...

interaction of glutaredoxin with the N termini of the copper-ATPases (ATP7A and ATP7B) defective in Menkes and Wilson diseases". Biochem. Biophys. Res. Commun...

Plasma: ↓K, ↓CO2; urine: ↑LMWP, ↑AA, ↑PO4, ↑K Wilson's disease [277900] ATP7B 13q14.3-q21.1 AR Liver disease or neurologic symptoms, or both, Kayser–Fleischer...

"Copper-dependent interaction of dynactin subunit p62 with the N terminus of ATP7B but not ATP7A". The Journal of Biological Chemistry. 281 (20): 14006–14...

194070; GPC3 Wilms' tumor, type 1; 194070; WT1 Wilson's disease; 277900; ATP7B Wiskott–Aldrich syndrome; 301000; WAS Witkop syndrome; 189500; MSX1 Wolcott–Rallison...

the exon-skipping effect of Met645Arg, a genetic mutation affecting the ATP7B copper-binding protein. Engineers at Duke University report the use of machine...