| Gene Symbol | PTCH1 |
| Full Name | Patched 1 (Hedgehog Receptor) |
| Chromosome | 9q22.32 |
| Function | is a 12-pass transmembrane protein that functions as the negative regulator of the Hedgehog pathway by inhibiting Smoothened (SMO) in the absence of Hedgehog ligands[@gates2015]. |
| Primary Expression | several regions relevant to neurodegenerative disease[@khalil2019]: |
| Molecular Weight | 160 kDa |
| Amino Acids | 1448 aa |
| Exons | 24 |
| Pathways | signaling: **Canonical Pathway**: |
| GeneCards | PTCH1 |
| Human Protein Atlas | PTCH1 |
| Twelve transmembrane domains | Organized in two clusters of six helices each, forming the protein's transmembrane architecture |
| Sterol-sensing domain (SSD) | A conserved region in transmembrane helices 6-10 that mediates interaction with SMO and responds to cholesterol derivatives |
| Large extracellular loops | Multiple loops facing the extracellular space that bind Hedgehog ligands (SHH, IHH, DHH) |
| Intracellular C-terminal tail | Cytoplasmic domain involved in downstream signaling regulation |
| Associated Diseases | Parkinson's disease, Alzheimer's disease |
| Interactions | APOPTOSIS, ATXN3, INFLAMMATION, NEURON, SHH, SYNAPSE |
| KG Connections | 20 knowledge graph edges |
| Databases | GeneCardsUniProtNCBI GeneHPASTRING |
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