检测编号：GS1000599

服务项目

境象生物为您提供PTCH1基因的突变检测服务。

样本要求

唾液（2ml以上）、全血（2ml以上）

服务周期

合同签订后30个工作日。

报告结果

服务报告包含检测基因、检出位点、基因型、是否发生突变、突变等位基因频率等结果。

检测方法

测序法

基因信息

基因名称	基因全名	基因位置	外显子个数	CDS长度
PTCH1	patched 1	9q22.3	24	约7943 bp
基因摘要	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. [provided by RefSeq, Jul 2008].

相关文献

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2. Assié G et al, Integrated genomic characterization of adrenocortical carcinoma., Nature genetics;46(6):607-12, 2014, PubMed Link
3. Crompton BD et al, The Genomic Landscape of Pediatric Ewing Sarcoma., Cancer discovery, 2014, PubMed Link
4. Gao YB et al, Genetic landscape of esophageal squamous cell carcinoma., Nature genetics;46(10):1097-102, 2014, PubMed Link
5. Giannakis M et al, RNF43 is frequently mutated in colorectal and endometrial cancers., Nature genetics;46(12):1264-6, 2014, PubMed Link