structural:reformatting, stylistic:style_transfer, quality:corruption, quality:correction
Genetic

The transmembrane protein encoded by PTCH2 is 1204 amino acids long and is involved with inhibiting the sonic hedgehog signalling pathway that is involved with development. PTCH2 inhibits the smooth frizzled class receptor (SMO) which when active is responsible for increasing transcription rates of many genes involved with development and differentiation. PTCH2 (Val147Ile) is a loss of function mutation which results in a lack of control of cell growth during development and links it to macrostomia.