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Genetics Home Reference: your guide to understanding genetic conditions
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PROP1

Reviewed August 2010

What is the official name of the PROP1 gene?

The official name of this gene is “PROP paired-like homeobox 1.”

PROP1 is the gene's official symbol. The PROP1 gene is also known by other names, listed below.

What is the normal function of the PROP1 gene?

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.

Does the PROP1 gene share characteristics with other genes?

The PROP1 gene belongs to a family of genes called homeobox (homeoboxes).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.

How are changes in the PROP1 gene related to health conditions?

combined pituitary hormone deficiency - caused by mutations in the PROP1 gene

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.

Where is the PROP1 gene located?

Cytogenetic Location: 5q35.3

Molecular Location on chromosome 5: base pairs 177,419,235 to 177,423,242

The PROP1 gene is located on the long (q) arm of chromosome 5 at position 35.3.

The PROP1 gene is located on the long (q) arm of chromosome 5 at position 35.3.

More precisely, the PROP1 gene is located from base pair 177,419,235 to base pair 177,423,242 on chromosome 5.

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 PROP1?

You and your healthcare professional may find the following resources about PROP1 helpful.

  • Educational resources - Information pages
    Endocrinology: An Integrated Approach (first edition, 2001): The Pituitary Gland (http://www.ncbi.nlm.nih.gov/books/NBK27/)
  • Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/books/NBK1347/)

  • Genetic Testing Registry - Repository of genetic test information

    • GTR: Genetic tests for PROP1 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=5626%5Bgeneid%5D)

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

  • PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=(PROP1%5BTIAB%5D)%20AND%20((Genes%5BMH%5D)%20OR%20(Genetic%20Phenomena%5BMH%5D))%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%201800%20days%22%5Bdp%5D)
  • OMIM - Genetic disorder catalog (http://omim.org/entry/601538)

  • Research Resources - Tools for researchers

    • Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_PROP1.html)
    • Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/5626)
    • GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=5626)
    • HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=9455)

What other names do people use for the PROP1 gene or gene products?

  • homeobox protein prophet of Pit-1
  • pituitary-specific homeodomain factor
  • PROP-1
  • PROP1_HUMAN
  • prophet of Pit1, paired-like homeodomain transcription factor

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 PROP1?

cell ; deficiency ; deletion ; differentiation ; DNA ; gene ; homeobox ; homeodomain ; hormone ; mutation ; pituitary gland ; protein ; puberty ; reproduction ; short stature ; stature ; transcription ; transcription factor

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

References

  • Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/5626)
  • 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. Review. (http://www.ncbi.nlm.nih.gov/pubmed/19837867?dopt=Abstract)
  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/19128366?dopt=Abstract)
  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/16984240?dopt=Abstract)
  • 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. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12464226?dopt=Abstract)
  • OMIM: PROPHET OF PIT1, PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION FACTOR (http://omim.org/entry/601538)

 

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 2010
Published: May 20, 2013