PROP paired-like homeobox 1
Zuletzt aktualisiert 7. Mai 2025
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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.
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.
Conditions referring to this gene or chromosome
Other names
homeobox protein prophet of Pit-1
pituitary-specific homeodomain factor
PROP-1
prophet of Pit1, paired-like homeodomain transcription factor
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Weiterführende Lektüre und Referenzen
- PROP paired-like homeobox 1; MedlinePlus, National Library of Medicine.
- 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.
- 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, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1347/
- 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.
- 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.
- 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.
- 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.
- 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.
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7. Mai 2025 | Neueste Version
1 May 2025 | Ursprünglich veröffentlicht
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