Immunogen sequence: THSGSDSSDS EYSSQTTVSG LSEELRHYEA QQGAGGPAHQ VIVEATENPV FAHSTVVHPE SRHHPPSNPR QQPHLDSGSL PPGRQGQQPR RDPPREGLW; Positive Samples: 293T, Mouse liver; Cellular Location: Membrane, Multi-pass membrane protein
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.
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Protein Aliases: etID309849.2; FLJ26746; FLJ42602; HGNC:9585; mesenchymal dysplasia; OTTHUMP00000021709; OTTHUMP00000021710; patched; Patched 1; patched homolog 2; patched1; Protein patched homolog 1; PTC; ptc-1; PTCH protein +12b; PTCH protein +4'; PTCH protein -10; PTCH protein -3; PTCH protein -3,4,5; Ptch1 protein +12b; RP11-435O5.3
Gene Aliases: A230106A15Rik; BCNS; HPE7; mes; NBCCS; PTC; PTC1; PTCH; PTCH1; PTCH11; Ptch2
Molecular Function: receptor