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 ?
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.
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.
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.
CTR1, along with ATP7A, also assists the absorption of copper across the intestinal wall (Pena et al.