Full name: patched 1

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: BCNS; NBCCS; PTC; PTC1; PTCH

Summary: This gene encodes a member of the patched family of proteins and a component of the hedgehog signaling pathway. Hedgehog signaling is important in embryonic development and tumorigenesis. The encoded protein is the receptor for the secreted hedgehog ligands, which include sonic hedgehog, indian hedgehog and desert hedgehog. Following binding by one of the hedgehog ligands, the encoded protein is trafficked away from the primary cilium, relieving inhibition of the G-protein-coupled receptor smoothened, which results in activation of downstream signaling. Mutations of this gene have been associated with basal cell nevus syndrome and holoprosencephaly. [provided by RefSeq, Aug 2017]

Expression: Broad expression in endometrium (RPKM 11.5), testis (RPKM 8.7) and 24 other tissues

Gene size: 73992bp

Exon count: 28