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Frameshift mutation in the PTCH2 gene can cause nevoid basal cell carcinoma syndrome.
PTCH2 isoforms have distinct roles in Hedgehog (show SHH Proteins) signalling.
PTCH2 (2157G-->A), a novel missense mutation, underlies NBCCS (show PTCH1 Proteins), resulting in the loss of PTCH2 inhibitory function in the Shh (show SHH Proteins) signalling pathway.
A susceptibility locus on 1p32-1p34 for congenital macrostomia in a Chinese family and identification of a novel PTCH2 mutation are reported.
during Hedgehog (show SHH Proteins) signaling, ligand binding inhibits Patched (show PTCH1 Proteins) by trapping it in an inactive conformation, a mechanism that explains the dramatically reduced activity of oncogenic Patched1 (show PTCH1 Proteins) mutants.
These findings support a model in which Ptch1 (show PTCH1 Proteins)/2 mediate secretion of a Smo-inhibitory cholesterol precursor.
Ptch2(-/-) niche cells show hyperactive noncanonical HH signaling, resulting in reduced production of essential HSC (show FUT1 Proteins) regulators (Scf (show KITLG Proteins), Cxcl12 (show CXCL12 Proteins), and Jag1 (show JAG1 Proteins)) and depletion of osteoblasts.
Ptch2 is a functional Shh (show SHH Proteins) receptor that shares overlapping functions with Ptch1 (show PTCH1 Proteins) in Smo regulation and limb development.
Ptch1 (show PTCH1 Proteins)(-/-);Ptch2(-/-) cells cannot further activate the Shh (show SHH Proteins) response, demonstrating that Ptch2 mediates the response to Shh (show SHH Proteins) in the absence of Ptch1 (show PTCH1 Proteins).
Our studies indicate that concomitant loss of Ptch1 (show PTCH1 Proteins) and Ptch2 activity inhibits epidermal lineage specification and differentiation.
PTCH2 is a direct transcriptional target that antagonizes hedgehog (show SHH Proteins) signaling in NIH/3T3 cells.
Single-strand conformation polymorphism analysis was used to map mouse Ptch2 to chromosome 4 between the microsatellite markers D4Mit20 and D4Mit334.
Functional compensation by Ptc1 (show PTCH1 Proteins) might account for the lack of a strong mutant phenotype in Ptc2-deficient mice. Normal Ptc2 function is required for adult skin homeostasis.
Zyxin (show ZYX Proteins) binding to Ptc2 is due to the interaction of Zyxin (show ZYX Proteins) 2nd LIM (show PDLIM5 Proteins)-domain (530-590 aa) with the under-membrane region of the cytoplasmic C-terminus of Ptc2 (1159-1412 aa).
Results demonstrate a direct link between overproliferation and retinal dysplasia in the ptc2-/- juvenile retina and establish ectopic proliferation as the likely cellular underpinning of retinal dysplasia in juvenile ptc2-/- mutants.
The Hedgehog (show SHH Proteins) co-receptors patched1 (show PTCH1 Proteins) and patched2 are expressed in regions of the perichondrium that will form bone before the onset of ossification.
The generation and characterization of the ptc1 (show PTCH1 Proteins);ptc2 double mutant assigned novel and unexpected functions to the Hh signaling pathway.
Positional cloning of blowout (show PTCH1 Proteins) identified a nonsense mutation in patched1 (show PTCH1 Proteins), a negative regulator of the Hedgehog (show SHH Proteins) pathway, as the underlying cause of the blowout (show PTCH1 Proteins) phenotype.
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.
patched homolog 2
, protein patched homolog 2
, patched homolog 1
, xptc 2
, patched 1
, protein patched homolog 1