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PROP1 gene
URL of this page: https://medlineplus.gov/genetics/gene/prop1/

PROP1 gene

PROP paired-like homeobox 1

Normal Function

The PROP1 gene provides instructions for making a transcription factor, which is a protein that controls the activity of many other genes. The PROP1 protein is found only in the pituitary gland, which is located at the base of the brain. The pituitary gland produces and releases hormones that are needed for growth, development, and other critical body functions. The PROP1 protein helps cell types specialize (differentiate) within the pituitary gland.

Health Conditions Related to Genetic Changes

Combined pituitary hormone deficiency

Many variants (also called mutations) in the PROP1 gene have been found to cause combined pituitary hormone deficiency. This condition causes a partial or complete loss (deficiency) of two or more pituitary hormones. Typically these hormones include growth hormone, which is necessary for proper growth; thyroid stimulating hormone, which triggers the release of hormones that control how the body uses energy; and prolactin, which stimulates the production of breast milk. Pituitary function may worsen over time in people with combined pituitary hormone deficiency, which can lead to a condition in which the small glands on top of the kidneys (the adrenal glands) do not produce enough hormones (adrenal insufficiency).

The most common PROP1 gene variants delete one or two DNA building blocks (base pairs) in the PROP1 gene. These deletions cause cells to produce an abnormally short version of the protein. The shortened protein is not able to regulate the activity of other genes as it should. These protein changes can disrupt pituitary cell differentiation, which may reduce or prevent the production of several pituitary hormones. A lack of pituitary hormones can cause short stature, delayed or absent puberty, and the other signs and symptoms seen in people with combined pituitary hormone deficiency.

More About This Health Condition

Other Names for This Gene

  • homeobox protein prophet of Pit-1
  • pituitary-specific homeodomain factor
  • PROP-1
  • prophet of Pit1, paired-like homeodomain transcription factor

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Gene and Variant Databases

References

  • Bottner A, Keller E, Kratzsch J, Stobbe H, Weigel JF, Keller A, Hirsch W, Kiess W, Blum WF, Pfaffle RW. PROP1 mutations cause progressive deterioration of anterior pituitary function including adrenal insufficiency: a longitudinal analysis. J Clin Endocrinol Metab. 2004 Oct;89(10):5256-65. doi: 10.1210/jc.2004-0661. Citation on PubMed
  • Carvalho LR, Nishi MY, Correa FA, Moreira Marques J, Arnhold IJP, Mendonca BB. PROP1-Related Combined Pituitary Hormone Deficiency. 2000 Dec 7 [updated 2022 Feb 24]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. Available from http://www.ncbi.nlm.nih.gov/books/NBK1347/ Citation on PubMed
  • Dusatkova P, Pfaffle R, Brown MR, Akulevich N, Arnhold IJ, Kalina MA, Kot K, Krzisnik C, Lemos MC, Malikova J, Navardauskaite R, Obermannova B, Pribilincova Z, Sallai A, Stipancic G, Verkauskiene R, Cinek O, Blum WF, Parks JS, Austerlitz F, Lebl J. Genesis of two most prevalent PROP1 gene variants causing combined pituitary hormone deficiency in 21 populations. Eur J Hum Genet. 2016 Mar;24(3):415-20. doi: 10.1038/ejhg.2015.126. Epub 2015 Jun 10. Citation on PubMed
  • Kelberman D, Rizzoti K, Lovell-Badge R, Robinson IC, Dattani MT. Genetic regulation of pituitary gland development in human and mouse. Endocr Rev. 2009 Dec;30(7):790-829. doi: 10.1210/er.2009-0008. Epub 2009 Oct 16. Citation on PubMed or Free article on PubMed Central
  • Kelberman D, Turton JP, Woods KS, Mehta A, Al-Khawari M, Greening J, Swift PG, Otonkoski T, Rhodes SJ, Dattani MT. Molecular analysis of novel PROP1 mutations associated with combined pituitary hormone deficiency (CPHD). Clin Endocrinol (Oxf). 2009 Jan;70(1):96-103. doi: 10.1111/j.1365-2265.2008.03326.x. Epub 2008 Jun 25. Citation on PubMed
  • Lemos MC, Gomes L, Bastos M, Leite V, Limbert E, Carvalho D, Bacelar C, Monteiro M, Fonseca F, Agapito A, Castro JJ, Regateiro FJ, Carvalheiro M. PROP1 gene analysis in Portuguese patients with combined pituitary hormone deficiency. Clin Endocrinol (Oxf). 2006 Oct;65(4):479-85. doi: 10.1111/j.1365-2265.2006.02617.x. Citation on PubMed
  • Mody S, Brown MR, Parks JS. The spectrum of hypopituitarism caused by PROP1 mutations. Best Pract Res Clin Endocrinol Metab. 2002 Sep;16(3):421-31. doi: 10.1053/beem.2002.0218. Citation on PubMed

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