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Genetics Home Reference: your guide to understanding genetic conditions
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AIP

Reviewed August 2013

What is the official name of the AIP gene?

The official name of this gene is “aryl hydrocarbon receptor interacting protein.”

AIP is the gene's official symbol. The AIP gene is also known by other names, listed below.

What is the normal function of the AIP gene?

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.

How are changes in the AIP gene related to health conditions?

familial isolated pituitary adenoma - caused by mutations in the AIP gene

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.

other disorders - caused by mutations in the AIP gene

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.

Where is the AIP gene located?

Cytogenetic Location: 11q13.3

Molecular Location on chromosome 11: base pairs 67,483,033 to 67,491,107

The AIP gene is located on the long (q) arm of chromosome 11 at position 13.3.

The AIP gene is located on the long (q) arm of chromosome 11 at position 13.3.

More precisely, the AIP gene is located from base pair 67,483,033 to base pair 67,491,107 on chromosome 11.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about AIP?

You and your healthcare professional may find the following resources about AIP helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the AIP gene or gene products?

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

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding AIP?

acids ; adenoma ; cell ; cell proliferation ; differentiation ; familial ; gene ; growth hormone ; hormone ; inherited ; mutation ; pituitary gland ; proliferating ; proliferation ; protein ; receptor ; somatotropin ; sporadic ; tumor

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • OMIM: ARYL HYDROCARBON RECEPTOR-INTERACTING PROTEIN (http://omim.org/entry/605555)
  • Beckers A, Aaltonen LA, Daly AF, Karhu A. Familial isolated pituitary adenomas (FIPA) and the pituitary adenoma predisposition due to mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene. Endocr Rev. 2013 Apr;34(2):239-77. doi: 10.1210/er.2012-1013. Epub 2013 Jan 31. Review. (http://www.ncbi.nlm.nih.gov/pubmed/23371967?dopt=Abstract)
  • Cazabat L, Bouligand J, Salenave S, Bernier M, Gaillard S, Parker F, Young J, Guiochon-Mantel A, Chanson P. Germline AIP mutations in apparently sporadic pituitary adenomas: prevalence in a prospective single-center cohort of 443 patients. J Clin Endocrinol Metab. 2012 Apr;97(4):E663-70. doi: 10.1210/jc.2011-2291. Epub 2012 Feb 8. (http://www.ncbi.nlm.nih.gov/pubmed/22319033?dopt=Abstract)
  • 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, De Herder 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 hydrocarbon receptor-interacting protein gene mutations in familial isolated pituitary adenomas: analysis in 73 families. J Clin Endocrinol Metab. 2007 May;92(5):1891-6. Epub 2007 Jan 23. (http://www.ncbi.nlm.nih.gov/pubmed/17244780?dopt=Abstract)
  • 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 in pituitary adenomas. Am J Pathol. 2009 Dec;175(6):2501-7. doi: 10.2353/ajpath.2009.081131. Epub 2009 Oct 22. (http://www.ncbi.nlm.nih.gov/pubmed/19850893?dopt=Abstract)
  • Igreja S, Chahal HS, King P, Bolger GB, Srirangalingam U, Guasti L, Chapple JP, Trivellin G, Gueorguiev M, Guegan K, Stals K, Khoo B, Kumar AV, Ellard S, Grossman AB, Korbonits M; International FIPA Consortium. Characterization of aryl hydrocarbon receptor interacting protein (AIP) mutations in familial isolated pituitary adenoma families. Hum Mutat. 2010 Aug;31(8):950-60. doi: 10.1002/humu.21292. (http://www.ncbi.nlm.nih.gov/pubmed/20506337?dopt=Abstract)
  • 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, Gadelha MR, 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-interacting protein gene in familial and sporadic pituitary adenomas. J Clin Endocrinol Metab. 2008 Jun;93(6):2390-401. doi: 10.1210/jc.2007-2611. Epub 2008 Apr 1. (http://www.ncbi.nlm.nih.gov/pubmed/18381572?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/9049)
  • Tichomirowa MA, Barlier A, Daly AF, Jaffrain-Rea ML, Ronchi C, Yaneva M, Urban JD, Petrossians P, Elenkova A, Tabarin A, Desailloud R, Maiter D, Schürmeyer T, Cozzi R, Theodoropoulou M, Sievers C, Bernabeu I, Naves LA, Chabre O, Montañana CF, 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. High prevalence of AIP gene mutations following focused screening in young patients with sporadic pituitary macroadenomas. Eur J Endocrinol. 2011 Oct;165(4):509-15. doi: 10.1530/EJE-11-0304. Epub 2011 Jul 13. (http://www.ncbi.nlm.nih.gov/pubmed/21753072?dopt=Abstract)
  • 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, Mäkinen MJ, 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. (http://www.ncbi.nlm.nih.gov/pubmed/16728643?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: August 2013
Published: December 16, 2014