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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.
Read more about gene names and symbols on the About page.
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?
Genetics Home Reference provides information about nonsyndromic holoprosencephaly, which is also associated with changes in the PTCH1 gene.
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.
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? 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?
See How are genetic conditions and genes named? in the Handbook.
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
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.
See also Understanding Medical Terminology.
References (12 links)
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? in the Handbook.