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Repert. med. cir ; 30(1): 13-21, 2021. Ilus., tab.
Article in English | COLNAL, LILACS | ID: biblio-1281415

ABSTRACT

El gen AIP (proteína moduladora de la actividad del receptor de aril hidrocarburos) se localiza en la región 11q13.2 y codifica para una proteína de 330 aminoácidos que interactúa con el factor de transcripción AhR (receptor para aril hidrocarburos). Las mutaciones en este gen se han asociado con adenomas pituitarios aislados de tipo familiar (APAF). Se caracterizan por una presentación temprana (alrededor de 20 años), por lo regular producen hormona de crecimiento y/o prolactina, tienen un comportamiento clínico agresivo y poca respuesta a análogos de somatostatina.


The AIP gene (aryl hydrocarbon receptor interacting protein) is located on chromosome 11q13.2 and encodes a 330 amino acid protein which interacts with the aryl hydrocarbon receptor (AHR) transcription factor. Mutations in the AIP gene have been associated with familial isolated pituitary adenomas (FIPA). They characterize by an early-onset (around the age of 20 years old) and for being aggressive, growth hormone and/or prolactin-secreting tumors, with poor response to somatostatin analogues.


Subject(s)
Pituitary Neoplasms/genetics , Intercellular Signaling Peptides and Proteins , Intercellular Signaling Peptides and Proteins/metabolism , Pituitary Diseases/genetics , Pituitary Diseases/metabolism , Pituitary Neoplasms/metabolism , Adenoma/genetics , Adenoma/metabolism
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