PTCH1 is a member of the patched gene family and is the receptor for sonic hedgehog, a secreted molecule implicated in the formation of embryonic structures and in tumorigenesis. This gene functions as a tumor suppressor .

2024年12月25日 · PTCH1 (Patched 1) is a Protein Coding gene. Diseases associated with PTCH1 include Basal Cell Nevus Syndrome 1 and Holoprosencephaly 7. Among its related pathways are Endochondral ossification with skeletal dysplasias and Signaling by Hedgehog.

在没有 Hh 配体的情况下，Hh 受体如 Ptch-1，定位于初级纤毛，可以阻止 SMO 积累且抑制 SMO 活性。 蛋白激酶，如 PKA、GSK3β 和 CK1α，磷酸化 GLI2 和 GLI3，导致蛋白体介导全长 Gli 裂解为截短形式 Gli2R、Gli3R，并作为 Hh 靶基因表达的阻遏物。 此外，Sufu 通过与细胞质和细胞核中的 Gli 结合，充当该途径的另一个负调节因子，防止 Hh 靶基因的激活。 在存在 Hh 配体 (如Shh) 的情况下，Hh 配体会与 Ptch-1结合后，Ptch-1 被内化 (Endocytosis)，解除对 Smo 的抑 …

The PTCH1 gene provides instructions for producing the patched-1 protein, which functions as a receptor. Receptor proteins have specific sites into which certain other proteins, called ligands, fit like keys into locks.

Patched1 (PTCH1) is a frequently altered gene in CRCs and its mutations contribute to unregulated Hedgehog (Hh) signaling. In the study, we evaluated the association of PTCH1 mutations with CRC immunity based on our single-center …

PTCH1 (NCBI Reference Sequence NM_000264.3) is the human homolog of the Drosophila patched‐1 gene and is located on chromosome 9q22.3. It contains 24 exons with the transcriptional start site in exon 1 and the termination site in exon 23. PTCH1 encodes a 1447‐amino acid transmembrane glycoprotein, which is part of the hedgehog (Hh) pathway ...

2024年12月10日 · Title: Implicating clinical utility of altered expression of PTCH1 & SMO in oral squamous cell carcinoma. TRIM37 interacts with EZH2 to epigenetically suppress PTCH1 and regulate stemness in glioma stem cells through sonic hedgehog pathway.

the 897G-A mutation in the PTCH1 gene is the cause of nevoid basal cell carcinoma syndrome in the Chinese family and works by altering the protein activity of PTCH1, which then activates the Shh/Gli signaling pathway.

该基因编码修补蛋白家族的一个成员和刺猬信号通路的一个组成部分。 Hedgehog 信号在胚胎发育和肿瘤发生中很重要。 编码的蛋白质是分泌的刺猬配体的受体，刺猬配体包括音速刺猬、印度刺猬和沙漠刺猬。 在被一种刺猬配体结合后，编码的蛋白质被从初级纤毛运输走，减轻了对平滑的 G 蛋白偶联受体的抑制，从而激活了下游信号。 该基因的突变与基底细胞痣综合征和前脑无裂畸形有关。 [RefSeq 提供，2017 年 8 月] This gene encodes a member of the patched family of …

Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly. Characterisation of human patched germ line mutations in naevoid basal cell carcinoma syndrome. Identification and characterization of multiple isoforms of a murine and human tumor suppressor, patched, having distinct first exons.