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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for PTCH1 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID5727
Official gene symbolPTCH1
Full namepatched homolog 1 (Drosophila)
Aliases,BCNS,FLJ26746,FLJ42602,HPE7,NBCCS,PTC,PTC1,PTCH,PTCH11,
Gene summaryThis 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]
LocationChromosome: 9   Locus: 9q22.3
Gene position98279247 - 98205264  Map Viewer
Gene orientationminus
Gene size73984 bp
Gene sequence
OMIM ID601309