Gene: PTCH1

Alternate names for this Gene: BCNS|NBCCS|PTC|PTC1|PTCH

Gene 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.

Gene is located in Chromosome: 9

Location in Chromosome : 9q22.32

Description of this Gene: patched 1

Type of Gene: protein-coding

Gene: LOC100507346

Alternate names for this Gene:

Gene Summary:

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rs765371196 in PTCH1;LOC100507346 gene and ANTERIOR SEGMENT DYSGENESIS 5 PMID 26893459 2016 Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network.

rs878853852 in PTCH1;LOC100507346 gene and Basal Cell Nevus Syndrome PMID 16419085 2006 PTCH mutations: distribution and analyses.

PMID 16301862 2006 Clinical testing for the nevoid basal cell carcinoma syndrome in a DNA diagnostic laboratory.

rs16909898 in PTCH1;LOC100507346 gene and Forced expiratory volume function PMID 23284291 2012 Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.

rs199476092 in PTCH1;LOC100507346 gene and HOLOPROSENCEPHALY 7 PMID 11941477 2002 Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly.

PMID 17096318 2006 GLI2 mutations in four Brazilian patients: how wide is the phenotypic spectrum?

PMID 17001668 2006 PTCH mutations in four Brazilian patients with holoprosencephaly and in one with holoprosencephaly-like features and normal MRI.

rs863224650 in PTCH1;LOC100507346 gene and Neoplastic Syndromes, Hereditary PMID 16906569 2006 Patched mutations and hairy skin patches: a new sign in Gorlin syndrome.

rs16909898 in PTCH1;LOC100507346 gene and Pulmonary function PMID 20010835 2010 Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function.

rs16909898 in PTCH1;LOC100507346 gene and Pulmonary function (finding) PMID 20010835 2010 Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function.

rs16909898 in PTCH1;LOC100507346 gene and Respiratory Function Tests PMID 23284291 2012 Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.

PMID 20010835 2010 Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function.