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    Topic review

    AIP Gene

    Subjects: Genetics
    View times: 3
    Submitted by: Bruce Ren
    (This entry belongs to Entry Collection "MedlinePlus ")

    Definition

    aryl hydrocarbon receptor interacting protein

    1. Normal Function

    The AIP gene provides instructions for making a protein called aryl hydrocarbon receptor-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.

    2. Health Conditions Related to Genetic Changes

    2.1 Familial isolated pituitary adenoma

    Mutations in the AIP gene cause 15 to 25 percent of cases of familial isolated pituitary adenoma (FIPA), an inherited condition characterized by development of a noncancerous tumor in the pituitary gland (called a pituitary adenoma). This small gland at the base of the brain produces hormones that control many important body functions. There are several types of pituitary adenomas categorized by the hormone they produce. Affected individuals within the same family may develop the same type of pituitary adenoma or different types. People with a mutation in the AIP gene most commonly develop a type of pituitary adenoma called a somatotropinoma. FIPA tumors caused by AIP gene mutations usually occur at a younger age and are larger than those without AIP gene mutations.

    Many kinds of mutations in the AIP gene have been identified in affected families. Some of these changes lead to an abnormally short protein or no protein at all. Other mutations change single protein building blocks (amino acids) in AIP. Although it is unclear how these mutations are involved in tumor development, researchers believe that the alterations disrupt interaction between AIP and one or more other proteins. The ability of AIP to control cell proliferation may be reduced, allowing pituitary cells to grow and divide unchecked and form a tumor. It is not known why the pituitary gland is specifically affected or why certain types of pituitary adenomas develop.

    Even before FIPA was defined as a condition, doctors recognized that somatotropinomas could occur in multiple members of a family. They referred to these tumors as isolated familial somatotropinoma. These tumors produce and release excess growth hormone (also called somatotropin), which promotes growth of the body. Because it can cause overgrowth of the hands, feet, and face (acromegaly), the condition is also referred to as familial isolated acromegaly. Later, researchers discovered that isolated familial somatotropinoma can be caused by mutations in the AIP gene, and these tumors are now considered part of FIPA.

    2.2 Other disorders

    Mutations in the AIP gene are found in a small percentage of individuals with sporadic macroadenomas, which are large (macro-) pituitary adenomas that occur in individuals with no history of the condition in their family. When caused by AIP gene mutations, the tumors occur at a relatively young age, usually before age 30. Although other family members are not affected, the gene mutation is often inherited from a parent who never developed an adenoma.

    3. Other Names for This Gene

    • AH receptor-interacting protein
    • AIP_HUMAN
    • ARA9
    • FKBP16
    • FKBP37
    • HBV X-associated protein 2
    • immunophilin homolog ARA9
    • SMTPHN
    • XAP-2
    • XAP2

    The entry is from https://medlineplus.gov/genetics/gene/aip

    References

    1. Beckers A, Aaltonen LA, Daly AF, Karhu A. Familial isolated pituitary adenomas(FIPA) and the pituitary adenoma predisposition due to mutations in the arylhydrocarbon receptor interacting protein (AIP) gene. Endocr Rev. 2013Apr;34(2):239-77. doi: 10.1210/er.2012-1013.
    2. Cazabat L, Bouligand J, Salenave S, Bernier M, Gaillard S, Parker F, Young J, Guiochon-Mantel A, Chanson P. Germline AIP mutations in apparently sporadicpituitary adenomas: prevalence in a prospective single-center cohort of 443patients. J Clin Endocrinol Metab. 2012 Apr;97(4):E663-70. doi:10.1210/jc.2011-2291.
    3. Daly AF, Vanbellinghen JF, Khoo SK, Jaffrain-Rea ML, Naves LA, Guitelman MA,Murat A, Emy P, Gimenez-Roqueplo AP, Tamburrano G, Raverot G, Barlier A, DeHerder W, Penfornis A, Ciccarelli E, Estour B, Lecomte P, Gatta B, Chabre O,Sabaté MI, Bertagna X, Garcia Basavilbaso N, Stalldecker G, Colao A, Ferolla P,Wémeau JL, Caron P, Sadoul JL, Oneto A, Archambeaud F, Calender A, Sinilnikova O,Montañana CF, Cavagnini F, Hana V, Solano A, Delettieres D, Luccio-Camelo DC,Basso A, Rohmer V, Brue T, Bours V, Teh BT, Beckers A. Aryl hydrocarbonreceptor-interacting protein gene mutations in familial isolated pituitaryadenomas: analysis in 73 families. J Clin Endocrinol Metab. 2007May;92(5):1891-6.
    4. Heliövaara E, Raitila A, Launonen V, Paetau A, Arola J, Lehtonen H, Sane T,Weil RJ, Vierimaa O, Salmela P, Tuppurainen K, Mäkinen M, Aaltonen LA, Karhu A.The expression of AIP-related molecules in elucidation of cellular pathways inpituitary adenomas. Am J Pathol. 2009 Dec;175(6):2501-7. doi:10.2353/ajpath.2009.081131.
    5. Igreja S, Chahal HS, King P, Bolger GB, Srirangalingam U, Guasti L, ChappleJP, Trivellin G, Gueorguiev M, Guegan K, Stals K, Khoo B, Kumar AV, Ellard S,Grossman AB, Korbonits M; International FIPA Consortium. Characterization of arylhydrocarbon receptor interacting protein (AIP) mutations in familial isolatedpituitary adenoma families. Hum Mutat. 2010 Aug;31(8):950-60. doi:10.1002/humu.21292.
    6. Leontiou CA, Gueorguiev M, van der Spuy J, Quinton R, Lolli F, Hassan S,Chahal HS, Igreja SC, Jordan S, Rowe J, Stolbrink M, Christian HC, Wray J,Bishop-Bailey D, Berney DM, Wass JA, Popovic V, Ribeiro-Oliveira A Jr, GadelhaMR, Monson JP, Akker SA, Davis JR, Clayton RN, Yoshimoto K, Iwata T, Matsuno A,Eguchi K, Musat M, Flanagan D, Peters G, Bolger GB, Chapple JP, Frohman LA,Grossman AB, Korbonits M. The role of the aryl hydrocarbon receptor-interactingprotein gene in familial and sporadic pituitary adenomas. J Clin EndocrinolMetab. 2008 Jun;93(6):2390-401. doi: 10.1210/jc.2007-2611.
    7. Tichomirowa MA, Barlier A, Daly AF, Jaffrain-Rea ML, Ronchi C, Yaneva M, UrbanJD, Petrossians P, Elenkova A, Tabarin A, Desailloud R, Maiter D, Schürmeyer T,Cozzi R, Theodoropoulou M, Sievers C, Bernabeu I, Naves LA, Chabre O, MontañanaCF, Hana V, Halaby G, Delemer B, Aizpún JI, Sonnet E, Longás AF, Hagelstein MT,Caron P, Stalla GK, Bours V, Zacharieva S, Spada A, Brue T, Beckers A. Highprevalence of AIP gene mutations following focused screening in young patientswith sporadic pituitary macroadenomas. Eur J Endocrinol. 2011 Oct;165(4):509-15. doi: 10.1530/EJE-11-0304.
    8. Vierimaa O, Georgitsi M, Lehtonen R, Vahteristo P, Kokko A, Raitila A,Tuppurainen K, Ebeling TM, Salmela PI, Paschke R, Gündogdu S, De Menis E, MäkinenMJ, Launonen V, Karhu A, Aaltonen LA. Pituitary adenoma predisposition caused by germline mutations in the AIP gene. Science. 2006 May 26;312(5777):1228-30.
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