| Name |
|---|
PTCH2 Genepatched 2 This gene encodes a transmembrane receptor of the patched gene family. The encoded protein may function as a tumor suppressor in the hedgehog signaling pathway. Alterations in this gene have been associated with nevoid basal cell carcinoma syndrome, basal cell carcinoma, medulloblastoma, and susceptibility to congenital macrostomia. Alternatively spliced transcript variants have been described.[provided by RefSeq, Oct 2009] |
PTCH1 Genepatched 1 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] |
PTCHD3P2 Genepatched domain containing 3 pseudogene 2 |
PTCHD3P3 Genepatched domain containing 3 pseudogene 3 |
PTCHD3P1 Genepatched domain containing 3 pseudogene 1 |
LOC100287846 Genepatched 1 pseudogene |
PTCHD4 Genepatched domain containing 4 Predicted to be active in membrane. [provided by Alliance of Genome Resources, Mar 2025] |
PTCHD3 Genepatched domain containing 3 Located in endoplasmic reticulum and sperm midpiece. [provided by Alliance of Genome Resources, Mar 2025] |
PTCHD2 Genepatched domain containing 2 Involved in negative regulation of neuron differentiation; positive regulation of lipid metabolic process; and positive regulation of neural precursor cell proliferation. Located in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025] |
PTCHD1 Genepatched domain containing 1 This gene encodes a membrane protein with a patched domain. The encoded protein is similar to Drosophila proteins which act as receptors for the morphogen sonic hedgehog. Deletions in this gene, which is located on the X chromosome, are associated with intellectual disability and autism (PMID: 21091464, PMID: 20844286). [provided by RefSeq, Aug 2011] |