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.
Other Names
BCNS; FLJ26746; FLJ42602; HPE7; NBCCS; patched; patched homolog 1 (Drosophila); PTC; PTC1; PTC1_HUMAN; PTCH
Related Genetics Topics
- Gorlin syndrome — MedlinePlus Genetics
- Nonsyndromic holoprosencephaly — MedlinePlus Genetics
- Coloboma — MedlinePlus Genetics
- 9q22.3 microdeletion — MedlinePlus Genetics
Identifiers
- NCBI Gene: 5727
- OMIM: 601309
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
