NCIt definition : Protein patched homolog 1 (1447 aa, 161 kDa) is encoded by the human PTCH1 gene.
This protein is involved in the modulation of hedgehog protein family signaling pathways,
embryonic development, and tumor supression.;
NCIt note : Sonic hedgehog binding to protein patched homolog 1 appears to activate the 7-transmembrane
protein Smoothened by release from protein patched homolog 1-mediated inhibition.
Tumors may be associated with mutations that activate Smoothened or inactivate protein
patched homolog 1, causing excess activity of the hedgehog response pathway. (OMIM);