patched 1
Última actualización 19 Apr 2023
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El PTCH1 gene provides instructions for producing the patched-1 protein, which functions as a receptor. Receptor proteins have specific sites into which certain other proteins, called ligands, fit like keys into locks. A protein called Sonic Hedgehog is the ligand for the patched-1 receptor. Together, ligands and their receptors trigger signals that affect cell development and function.
Normal function
El PTCH1 gene provides instructions for producing the patched-1 protein, which functions as a receptor. Receptor proteins have specific sites into which certain other proteins, called ligands, fit like keys into locks. A protein called Sonic Hedgehog is the ligand for the patched-1 receptor. Together, ligands and their receptors trigger signals that affect cell development and function.
Patched-1 and Sonic Hedgehog function in a pathway that is essential for early development. This pathway plays a role in cell growth, cell specialization, and determining the shape (patterning) of many different parts of the developing body. When Sonic Hedgehog is not present, patched-1 prevents cells from growing and dividing (proliferating). When Sonic Hedgehog is attached, patched-1 stops suppressing cell proliferation. Based on its role in preventing cells from proliferating in an uncontrolled way, PTCH1 is called a tumour suppressor gene.
Conditions referring to this gene or chromosome
Otros nombres
BCNS
FLJ26746
FLJ42602
HPE7
NBCCS
patched
patched homolog 1 (Drosophila)
PTC
PTC1
PTC1_HUMAN
PTCH
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Lecturas adicionales y referencias
- patched 1; MedlinePlus, National Library of Medicine.
- Adolphe C, Hetherington R, Ellis T, Wainwright B. Patched1 functions as a gatekeeper by promoting cell cycle progression. Cancer Res. 2006 Feb 15;66(4):2081-8. doi: 10.1158/0008-5472.CAN-05-2146.
- Bale AE, Yu KP. The hedgehog pathway and basal cell carcinomas. Hum Mol Genet. 2001 Apr;10(7):757-62. doi: 10.1093/hmg/10.7.757.
- Gorlin RJ. Nevoid basal cell carcinoma (Gorlin) syndrome. Genet Med. 2004 Nov-Dec;6(6):530-9. doi: 10.1097/01.gim.0000144188.15902.c4. No abstract available.
- Iwasaki JK, Srivastava D, Moy RL, Lin HJ, Kouba DJ. The molecular genetics underlying basal cell carcinoma pathogenesis and links to targeted therapeutics. J Am Acad Dermatol. 2012 May;66(5):e167-78. doi: 10.1016/j.jaad.2010.06.054. Epub 2010 Aug 30.
- Lindstrom E, Shimokawa T, Toftgard R, Zaphiropoulos PG. PTCH mutations: distribution and analyses. Hum Mutat. 2006 Mar;27(3):215-9. doi: 10.1002/humu.20296.
- Ling G, Ahmadian A, Persson A, Unden AB, Afink G, Williams C, Uhlen M, Toftgard R, Lundeberg J, Ponten F. PATCHED and p53 gene alterations in sporadic and hereditary basal cell cancer. Oncogene. 2001 Nov 22;20(53):7770-8. doi: 10.1038/sj.onc.1204946.
- Lupi O. Correlations between the Sonic Hedgehog pathway and basal cell carcinoma. Int J Dermatol. 2007 Nov;46(11):1113-7. doi: 10.1111/j.1365-4632.2007.03391.x.
- Ming JE, Kaupas ME, Roessler E, Brunner HG, Golabi M, Tekin M, Stratton RF, Sujansky E, Bale SJ, Muenke M. Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly. Hum Genet. 2002 Apr;110(4):297-301. doi: 10.1007/s00439-002-0695-5. Epub 2002 Mar 2.
- Muller EA, Aradhya S, Atkin JF, Carmany EP, Elliott AM, Chudley AE, Clark RD, Everman DB, Garner S, Hall BD, Herman GE, Kivuva E, Ramanathan S, Stevenson DA, Stockton DW, Hudgins L. Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay. Am J Med Genet A. 2012 Feb;158A(2):391-9. doi: 10.1002/ajmg.a.34216. Epub 2011 Dec 21.
- Redon R, Baujat G, Sanlaville D, Le Merrer M, Vekemans M, Munnich A, Carter NP, Cormier-Daire V, Colleaux L. Interstitial 9q22.3 microdeletion: clinical and molecular characterisation of a newly recognised overgrowth syndrome. Eur J Hum Genet. 2006 Jun;14(6):759-67. doi: 10.1038/sj.ejhg.5201613.
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