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aip_gene

AIP gene

The AIP gene provides instructions for making a protein called aryl hydrocarbon interacting protein (AIP). Although AIP's function is not well understood, it is known to interact with numerous other proteins, including one called the aryl hydrocarbon receptor. Through these interactions, AIP likely helps regulate certain cell processes, such as the growth and division (proliferation) of cells, the process by which cells mature to carry out specific functions (differentiation), and cell survival. This protein is thought to act as a tumor suppressor, which means it normally helps prevent cells from proliferating in an uncontrolled way.

Case report

Marques et al. report a five-generation kindred with two brothers with pituitary gigantism due to AIP mutation-positive GH-secreting pituitary adenomas and their first-cousin coincidently also having gigantism due to Marfan syndrome 1).

1)
Marques P, Collier D, Barkan A, Korbonits M. Coexisting pituitary and non-pituitary gigantism in the same family. Clin Endocrinol (Oxf). 2018 Sep 17. doi: 10.1111/cen.13852. [Epub ahead of print] PubMed PMID: 30223298.
aip_gene.txt · Last modified: 2018/09/19 08:02 by administrador