ATP7B


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Related to ATP7B: ceruloplasmin

ATP7B

A gene on chromosome 13q14.3 that encodes a transmembrane protein that functions in copper transport across membranes, localising to the trans-Golgi network.

Molecular pathology
ATP7B mutations are associated with Wilson disease.
References in periodicals archive ?
La EW es un trastorno metabolico del transporte celular del Cu, autosomico recesivo, causado por mutaciones en el gen ATP7B en el cromosoma 13 (13q14.
Wilson's disease, an autosomal recessive disorder is characterized by a mutated ATP7B enzyme [1-14].
Specific primers for amplification of exons 1-21 of ATP7B (26) were designed by the Primer3 program (27) and used in PCR reactions to generate exonic fragments from the 4 WD pedigrees.
Son diversas las mutaciones que afectan dicho gen, alrededor de 357 mutaciones hasta la fecha han sido descritas; (2) sin embargo, la insercion de bases es lo mas frecuente, con un un 22%, (2) seguidas de mutaciones nonsense (18%), deleciones (17%), missense (17%) y mutaciones del sitio de splicing (16%); dichas mutaciones no son las mismas que la del gen ATP7B.
This is suggestive of cooperativity between MURR1 and ATP7B, to mediate excretion of excess copper into bile.
ATP7B is essential to the transport of hepatic copper into bile and is also involved in incorporating copper into ceruloplasmin, a protein that transports copper in the bloodstream.
Wilson's disease is transmitted as an autosomal recessive disease, which means that both parents must carry the defective ATP7B gene.
Data Sources: We searched documents from PubMed and Wanfang databases both in English and Chinese up to 2014 using the keywords WD in combination with genetic, ATP7B gene, gene mutation, genotype, phenotype.
Molecular Biology schemes: Factor V-Leiden, prothrombin, MTHFR, PAII (SERPINE1), factor XIII (F13A1), GPIIIa (1TGB3), [3Fib (FGB), VKORC1, Factor XII (F12), a1 PI, APOE, APOB, ACE, CETP, TPMT, CYP2C19, CYP2D6, CYP2C8, CYP2C9, UGT1A1 , DPD (DPYD), BCHE, ALDOB, HFE, LCT, NOD2, ATP7B, FSAP (HABP2), ITGA2, KRAS.
La ATP7B es altamente expresada en el higado, donde cumple un papel importante en la excresion del cobre cuando los niveles intracelulares del metal son elevados (5, 6).
Este proceso es similar al que ocurre en el enterocito duodenal con la hefastina y, ademas, puede incluir proteinas chaperonas del metabolismo del cobre como la Atox1que se une con este mineral para entregarlo a dos proteinas Cu-ATPasas, la ATP7A o proteina de Menbes y la ATP7B, que esta alterada en la enfermedad de Wilson.