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ptch1
PTCH1
PTCH1 (Patched 1) is the HH receptor; LOF → constitutive SMO → GLI1/2 transcription; germline PTCH1 mutations cause Gorlin syndrome (BCCs, SHH medulloblastoma); somatic PTCH1 LOF in ~90% sporadic BCC; SMO inhibitors (vismodegib, sonidegib) restore PTCH1-like SMO inhibition.
Entry Metadata
| Field | Value |
|---|---|
| ID | ptch1 |
| Name | PTCH1 |
| Status | draft |
| Last reviewed | 2026-06-06 |
| Atlas | 01-human |
| Scale | 03-molecular |
Cross-Atlas Connections
Sources
- Johnson RL, Rothman AL, Xie J, et al. Human homolog of patched, a candidate gene for the basal cell nevus syndrome. Science. 1996;272(5268):1668-1671. · PubMed 8658145
- Tang JY, Mackay-Wiggan JM, Aszterbaum M, et al. Inhibiting the hedgehog pathway in patients with the basal-cell nevus syndrome. N Engl J Med. 2012;366(23):2180-2188. · PubMed 22670901