這個基因編碼一個補丁基因家族的成員。編碼蛋白是聲波刺猬(一種與胚胎結構形成和腫瘤發生有關的分泌分子)以及沙漠刺猬和印度刺猬蛋白的受體。這個基因作為腫瘤抑制因子發揮作用。這種基因的突變與基底細胞痣綜合征、食管鱗狀細胞癌、毛細胞瘤、膀胱移行細胞癌以及無腦畸形有關。選擇性剪接導致編碼不同亞型的多個轉錄變體。已經描述了其他剪接變異體,但目前還不能確定它們的全長序列和生物學效度。
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.

基因名:PTCH1
別名:BCNS,HPE7,NBCCS,PTC,PTC1,PTCH,PTCH11
基因ID:5727
Chromosome:
(GRCh37)
9 Start: 98205262 End: 98279339 Strand: -1
信號通路: 細胞增殖  腫瘤干細胞 
靶向藥: 索尼德吉  維莫德吉 
化療藥:
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