patched 1
עודכן לאחרונה 19 Apr 2023
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ה 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
ה 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
Other names
BCNS
FLJ26746
FLJ42602
HPE7
NBCCS
patched
patched homolog 1 (Drosophila)
PTC
PTC1
PTC1_HUMAN
PTCH
Related patient information and medicines
Patient information leaflet
מדבקה למניעת הריון
ה מדבקת מניעה מטופל? a form of contraception which contains oestrogen and progestogen hormones. ה מדבקת מניעה מטופל? a form of contraception which contains oestrogen and progestogen hormones, similar to the משולבת oral contraceptive (COC) pill. The patch sticks to the skin. The contraceptive patch is stuck on to t... There is one.
Patient information leaflet
שיטות מניעה
Contraception is the process of taking steps to ensure you do not become pregnant when you have sex. They all have pros and co... This leaflet gives a brief summary of the methods of contraception. A more detailed leaflet is available for each of the methods described. The contraceptive patch is stuck on to the skin so that the two hormones are.
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Patient information leaflet
אמבליופיה (עין עצלה)
A squint (strabismus) מטופל? one of the most common causes of amblyopia. Treatment of amblyopia involves making the lazy eye work harder to see. About 1 in 25 children develop some degree of amblyopia. Amblyopia is the most common condition treated by children's (paediatric) eye surgeons (ophthalmologists) and professionals who treat eye movement and.
Patient information leaflet
פיטיריאזיס רוזאה
Pityriasis rosea is a self-limiting rash, In other words it goes away on its own without any treatment. Although the rash can be quite dramatic, the illness is very mild. It most commonly affects young adults but can affect all ages. However, some medicines can cause a rash which... What does the rash look like in pityriasis rosea. A 'herald.
Patient information leaflet
מחלת בוון
מחלת בוון מטופל? a very early form of skin cancer. It causes one or more small patches of scaly red skin. It occurs when skin cancer cells grow in the outer layer of the skin, but don't spread any deeper into the skin, or elsewhere in the body. This happens to about 3 out of every 100 people with Bowen's disea... What are the symptoms of Bowen's.
Patient information leaflet
פצעי לחץ
A pressure sore is an ulcerated area of skin caused by irritation and continuous pressure on part of your body. It starts as an area of skin damage. The damage can t... Initial signs may just be discomfort, or tingling and itchiness in these areas. Small areas of the skin change colour. Red patches on white skin, and purple or blue on brown or.
קריאה נוספת והפניות
- 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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