PTCH1 patched 1
Gene ID: 5727, updated on 5-Mar-2024Gene type: protein coding
Also known as: PTC; BCNS; PTC1; PTCH; BCNS1; NBCCS
- See all available tests in GTR for this gene
- Go to complete Gene record for PTCH1
- Go to Variation Viewer for PTCH1 variants
Summary
This gene encodes a member of the patched family of proteins and a component of the hedgehog signaling pathway. Hedgehog signaling is important in embryonic development and tumorigenesis. The encoded protein is the receptor for the secreted hedgehog ligands, which include sonic hedgehog, indian hedgehog and desert hedgehog. Following binding by one of the hedgehog ligands, the encoded protein is trafficked away from the primary cilium, relieving inhibition of the G-protein-coupled receptor smoothened, which results in activation of downstream signaling. Mutations of this gene have been associated with basal cell nevus syndrome and holoprosencephaly. [provided by RefSeq, Aug 2017]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A novel common variant in DCST2 is associated with length in early life and height in adulthood. GeneReviews: Not available | |
| Basal cell carcinoma, susceptibility to, 1 | See labs |
| Basal cell nevus syndrome 1 | See labs |
| Chemerin, a novel adipokine in the regulation of angiogenesis. GeneReviews: Not available | |
| Genome-wide association analysis identifies 20 loci that influence adult height. GeneReviews: Not available | |
| Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function. GeneReviews: Not available | |
| Holoprosencephaly 7 | See labs |
| Hundreds of variants clustered in genomic loci and biological pathways affect human height. GeneReviews: Not available | |
| Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function. GeneReviews: Not available | |
| Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci. GeneReviews: Not available |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2020-07-01) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 9q22.32
- Sequence:
- Chromosome: 9; NC_000009.12 (95442980..95516971, complement)
- Total number of exons:
- 28
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for PTCH1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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