PTCH1 Back

patched homolog 1 (Drosophila)

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NCBI Description of PTCH1
This gene encodes a member of the patched gene family. The encoded protein is the receptor for sonic hedgehog, a secreted molecule implicated in the formation of embryonic structures and in tumorigenesis, as well as the desert hedgehog and indian hedgehog proteins. This gene functions as a tumor suppressor. Mutations of this gene have been associated with basal cell nevus syndrome, esophageal squamous cell carcinoma, trichoepitheliomas, transitional cell carcinomas of the bladder, as well as holoprosencephaly. Alternative splicing results in multiple transcript variants encoding different isoforms. Additional splice variants have been described, but their full length sequences and biological validity cannot be determined currently.

Community Annotation of PTCH1 Add / Edit PTCH1: Annotations

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Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

PTCH1 is highly significantly mutated in
PTCH1 is significantly mutated in
PTCH1 is near significance in
Kidney clear cell
KIRC
7 patients (1%)

Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for PTCH1