Gene: LOC100507346

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

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

rs1060502292 in LOC100507346;PTCH1 gene and Basal Cell Nevus Syndrome PMID 16419085 2006 PTCH mutations: distribution and analyses.

PMID 8981943 1997 Most germ-line mutations in the nevoid basal cell carcinoma syndrome lead to a premature termination of the PATCHED protein, and no genotype-phenotype correlations are evident.

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

PMID 22952776 2012 Novel PTCH1 mutations in patients with keratocystic odontogenic tumors screened for nevoid basal cell carcinoma (NBCC) syndrome.

PMID 25131638 2014 Gorlin syndrome (nevoid basal cell carcinoma syndrome): update and literature review.

rs1060502292 in LOC100507346;PTCH1 gene and Neoplastic Syndromes, Hereditary PMID 8981943 1997 Most germ-line mutations in the nevoid basal cell carcinoma syndrome lead to a premature termination of the PATCHED protein, and no genotype-phenotype correlations are evident.