Skip to main content
Egyptian Journal of Medical Human Genetics
Fig. 2 | Egyptian Journal of Medical Human Genetics

Fig. 2

From: A novel pathogenic splice-site variant in the PTCH1 gene c.3549+1G>T, associated with Gorlin syndrome: a case report

Fig. 2

Simplified model for Hh signalling pathway. a In absence of the Hh ligands, PTCH1 inhibits SMO signalling and GLI transcription factors remain sequestered by SUFU. The Hh signalling pathway is inactive. b In presence of Hh ligands, PTCH1 suppression of SMO is abrogated and SMO signal SUFU to release GLI transcription factors which will activate the Hh target genes

Back to article page