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抗Human Patched 2 抗体:
抗Mouse (Murine) Patched 2 抗体:
抗Rat (Rattus) Patched 2 抗体:
Frameshift mutation in the PTCH2 gene can cause nevoid basal cell carcinoma syndrome.
PTCH2 isoforms have distinct roles in Hedgehog (显示 SHH 抗体) signalling.
PTCH2 (2157G-->A), a novel missense mutation, underlies NBCCS (显示 PTCH1 抗体), resulting in the loss of PTCH2 inhibitory function in the Shh (显示 SHH 抗体) 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 (显示 SHH 抗体) signaling, ligand binding inhibits Patched (显示 PTCH1 抗体) by trapping it in an inactive conformation, a mechanism that explains the dramatically reduced activity of oncogenic Patched1 (显示 PTCH1 抗体) mutants.
These findings support a model in which Ptch1 (显示 PTCH1 抗体)/2 mediate secretion of a Smo-inhibitory cholesterol precursor.
Ptch2(-/-) niche cells show hyperactive noncanonical HH signaling, resulting in reduced production of essential HSC (显示 FUT1 抗体) regulators (Scf (显示 KITLG 抗体), Cxcl12 (显示 CXCL12 抗体), and Jag1 (显示 JAG1 抗体)) and depletion of osteoblasts.
Ptch2 is a functional Shh (显示 SHH 抗体) receptor that shares overlapping functions with Ptch1 (显示 PTCH1 抗体) in Smo regulation and limb development.
Ptch1 (显示 PTCH1 抗体)(-/-);Ptch2(-/-) cells cannot further activate the Shh (显示 SHH 抗体) response, demonstrating that Ptch2 mediates the response to Shh (显示 SHH 抗体) in the absence of Ptch1 (显示 PTCH1 抗体).
Our studies indicate that concomitant loss of Ptch1 (显示 PTCH1 抗体) and Ptch2 activity inhibits epidermal lineage specification and differentiation.
PTCH2 is a direct transcriptional target that antagonizes hedgehog (显示 SHH 抗体) 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 (显示 PTCH1 抗体) might account for the lack of a strong mutant phenotype in Ptc2-deficient mice. Normal Ptc2 function is required for adult skin homeostasis.
Zyxin (显示 ZYX 抗体) binding to Ptc2 is due to the interaction of Zyxin (显示 ZYX 抗体) 2nd LIM (显示 PDLIM5 抗体)-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 (显示 SHH 抗体) co-receptors patched1 (显示 PTCH1 抗体) 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 (显示 PTCH1 抗体);ptc2 double mutant assigned novel and unexpected functions to the Hh signaling pathway.
Positional cloning of blowout (显示 PTCH1 抗体) identified a nonsense mutation in patched1 (显示 PTCH1 抗体), a negative regulator of the Hedgehog (显示 SHH 抗体) pathway, as the underlying cause of the blowout (显示 PTCH1 抗体) 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