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Genetics Home Reference: your guide to understanding genetic conditions
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PTCH1

Reviewed October 2012

What is the official name of the PTCH1 gene?

The official name of this gene is “patched 1.”

PTCH1 is the gene's official symbol. The PTCH1 gene is also known by other names, listed below.

What is the normal function of the PTCH1 gene?

The 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 tumor suppressor gene.

How are changes in the PTCH1 gene related to health conditions?

Gorlin syndrome - caused by mutations in the PTCH1 gene

More than 225 mutations in the PTCH1 gene have been found to cause Gorlin syndrome (also known as nevoid basal cell carcinoma syndrome), a condition that affects many areas of the body and increases the risk of developing various cancerous and noncancerous tumors. Mutations in this gene prevent the production of patched-1 or lead to the production of an abnormal version of the receptor. An altered or missing patched-1 receptor cannot effectively suppress cell growth and division. As a result, cells proliferate uncontrollably to form the tumors that are characteristic of Gorlin syndrome. It is less clear how PTCH1 gene mutations cause the other signs and symptoms related to this condition, including small depressions (pits) in the skin of the palms of the hands and soles of the feet, an unusually large head size (macrocephaly), and skeletal abnormalities.

9q22.3 microdeletion - associated with the PTCH1 gene

The PTCH1 gene is located in a region of chromosome 9 that is deleted in people with a 9q22.3 microdeletion. As a result of this deletion, affected individuals are missing one copy of the PTCH1 gene in each cell. Researchers believe that many of the features associated with 9q22.3 microdeletions, particularly the signs and symptoms of Gorlin syndrome (described above), result from a loss of the PTCH1 gene. When this gene is missing, patched-1 is not available to suppress cell proliferation. As a result, cells divide uncontrollably to form the tumors that are characteristic of Gorlin syndrome. Other signs and symptoms related to 9q22.3 microdeletions (such as delayed development, intellectual disability, overgrowth of the body, and other physical abnormalities) may result from the loss of additional genes in the deleted region of chromosome 9.

cancers - associated with the PTCH1 gene

Some mutations are acquired during a person's lifetime and are present only in certain cells. These genetic changes, called somatic mutations, are not inherited. Somatic mutations in both copies of the PTCH1 gene are associated with a non-hereditary (sporadic) type of skin cancer called basal cell carcinoma. Other sporadic types of cancer may be associated with somatic mutations in the PTCH1 gene, including some forms of skin cancer, a childhood brain tumor called medulloblastoma, breast cancer, and colon cancer. A noncancerous (benign) jaw tumor called a keratocystic odontogenic tumor can also be associated with somatic PTCH1 gene mutations.

other disorders - caused by mutations in the PTCH1 gene

At least seven mutations in the PTCH1 gene have been found to cause nonsyndromic holoprosencephaly. This condition occurs when the brain fails to divide into two halves during early development. PTCH1 gene mutations are a rare cause of nonsyndromic holoprosencephaly. These mutations prevent the signaling that is necessary for normal brain cell patterning. The signs and symptoms of nonsyndromic holoprosencephaly are caused by abnormal development of the brain and face.

Where is the PTCH1 gene located?

Cytogenetic Location: 9q22.3

Molecular Location on chromosome 9: base pairs 95,442,981 to 95,516,964

The PTCH1 gene is located on the long (q) arm of chromosome 9 at position 22.3.

The PTCH1 gene is located on the long (q) arm of chromosome 9 at position 22.3.

More precisely, the PTCH1 gene is located from base pair 95,442,981 to base pair 95,516,964 on chromosome 9.

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 PTCH1?

You and your healthcare professional may find the following resources about PTCH1 helpful.

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

What other names do people use for the PTCH1 gene or gene products?

  • BCNS
  • FLJ26746
  • FLJ42602
  • HPE7
  • NBCCS
  • patched
  • patched homolog 1 (Drosophila)
  • PTC
  • PTC1
  • PTC1_HUMAN
  • PTCH

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 PTCH1?

benign ; cancer ; carcinoma ; cell ; cell proliferation ; chromosome ; colon ; deletion ; disability ; gene ; hereditary ; holoprosencephaly ; inherited ; ligand ; macrocephaly ; medulloblastoma ; proliferate ; proliferating ; proliferation ; protein ; receptor ; sporadic ; syndrome ; tumor ; tumor suppressor gene

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

References

  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/16489008?dopt=Abstract)
  • Bale AE, Yu KP. The hedgehog pathway and basal cell carcinomas. Hum Mol Genet. 2001 Apr;10(7):757-62. Review. (http://www.ncbi.nlm.nih.gov/pubmed/11257109?dopt=Abstract)
  • Gorlin RJ. Nevoid basal cell carcinoma (Gorlin) syndrome. Genet Med. 2004 Nov-Dec;6(6):530-9. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15545751?dopt=Abstract)
  • 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. Review. (http://www.ncbi.nlm.nih.gov/pubmed/20800318?dopt=Abstract)
  • Lindström E, Shimokawa T, Toftgård R, Zaphiropoulos PG. PTCH mutations: distribution and analyses. Hum Mutat. 2006 Mar;27(3):215-9. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16419085?dopt=Abstract)
  • Ling G, Ahmadian A, Persson A, Undén AB, Afink G, Williams C, Uhlén M, Toftgård R, Lundeberg J, Pontén F. PATCHED and p53 gene alterations in sporadic and hereditary basal cell cancer. Oncogene. 2001 Nov 22;20(53):7770-8. (http://www.ncbi.nlm.nih.gov/pubmed/11753655?dopt=Abstract)
  • Lupi O. Correlations between the Sonic Hedgehog pathway and basal cell carcinoma. Int J Dermatol. 2007 Nov;46(11):1113-7. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17988327?dopt=Abstract)
  • 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. Epub 2002 Mar 2. Erratum in: Hum Genet 2002 Oct;111(4-5):464. (http://www.ncbi.nlm.nih.gov/pubmed/11941477?dopt=Abstract)
  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/22190277?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/5727)
  • OMIM: PATCHED, DROSOPHILA, HOMOLOG OF, 1 (http://omim.org/entry/601309)
  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/16570072?dopt=Abstract)

 

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: October 2012
Published: December 22, 2014