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PTCH1 patched 1

Gene ID: 5727, updated on 9-Jan-2022
Gene type: protein coding
Also known as: PTC; BCNS; PTC1; PTCH; NBCCS

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

DescriptionTests
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
MedGen: C2751544OMIM: 605462GeneReviews: Not available
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
Gorlin syndromeSee labs
Holoprosencephaly 7See 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

No evidence available (Last evaluated 2020-07-01)

ClinGen Genome Curation PagePubMed
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

Links

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