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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 protein that helps control the activity of many other genes. On the basis of this action, the PROP1 protein is known as a transcription factor. This protein is found only in the pituitary gland, which is located at the base of the brain. The pituitary gland releases hormones needed for growth, reproduction, and other critical body functions. The PROP1 protein helps in the specialization (differentiation) of cell types within the pituitary gland.

Health Conditions Related to Genetic Changes

Combined pituitary hormone deficiency

At least 25 mutations in the PROP1 gene have been found to cause combined pituitary hormone deficiency. The most common mutation deletes two DNA building blocks in the PROP1 gene (written as 301-302delAG). This deletion leads to the production of an abnormally short protein that cannot function properly. The shortened protein is less able to control the activity of other genes, which reduces pituitary cell differentiation and prevents the release of hormones from the pituitary gland. A lack of these hormones can cause short stature, delayed or absent puberty, and other signs and symptoms of 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
  • PROP1_HUMAN
  • 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

  • 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

The information on this site should not be used as a substitute for professional medical care or advice. Contact a health care provider if you have questions about your health.