ATP7A


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ATP7A

A gene on chromosome Xq21.1 that encodes a transmembrane protein that functions in copper transport across membranes, localising to the trans-Golgi network.

Molecular pathology
ATP7A mutations cause Menkes disease, occipital horn syndrome and X-linked cutis laxa.
References in periodicals archive ?
Identification of novel mutations of the ATP7A gene and prenatal diagnosis of Menkes disease by mutation analysis.
(5,6) The reason for this appears to be linked to the ATP7A genotype; some mutations permit residual copper transport and predict a more favourable response to treatment.
El gen para la proteina ATP7A esta constituido por 23 exones, se encuentra en el brazo largo del cromosoma X, en la region 13,3, (3) y codifica para una proteina del aparato de Golgi, de 1,500 aminoacidos, (3) que hace parte de la familia de las atpasas con 8 dominios transmembrana (12), (13) y 6 sitios de union al cobre.
La proteina ATP7A es un transportador citoplasmatico de cobre, que en condiciones normales facilita la exocitosis del metal a la sangre, la elimination del exceso a traves de la bilis o del intestino, (13-15) y el ingreso al aparato de Golgi para la sintesis de enzimas.
La incapacidad para la exocitosis genera un deficit sistemico relacionado con la absorcion intestinal, donde predomina la expresion del ATP7A; en este sentido, la diferencia con la enfermedad de Wilson, se postula por la expresion de cada isoforma en diferentes organos.
Menkes disease is a rare X-linked (Xq13) fatal disorder affecting one out of 200,000 newborn infants, resulting from a mutation in the gene encoding ATP7A. The mutant protein is no longer able to regulate the flux of copper resulting in a systemic deficiency of copper (45).
Afton et al., "Human macrophage ATP7A is localized in the trans-Golgi apparatus, controls intracellular copper levels, and mediates macrophage responses to dermal wounds," Inflammation, vol.
Pulmonary artery Cu concentration did not affect ctrl, atp7a or atp7b mRNA concentration in the pulmonary artery for any specie studied (Table 4).
CTR1, along with ATP7A, also assists the absorption of copper across the intestinal wall (Pena et al., 1999).
Inheritance of a defective ATP7A gene results in a decrease in copper transport across cellular membranes, primarily in the gastrointestinal tract that leads to dysfunction of numerous copper-dependent enzyme systems including: lysyl oxidase--intimal cleavage; monamide oxidase--kinky hair; ascorbate oxidase--skeletal deformities; tyrosinase depigmentation of hair, skin pallor; and, cytochrome C oxidase--hypothermia.