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This gene encodes a member of the patched gene family. The encoded protein is the receptor for sonic hedgehog, a secreted molecule implicated in the formation of embryonic structures and in tumorigenesis, as well as the desert hedgehog and indian hedgehog proteins. This gene functions as a tumor suppressor. Mutations of this gene have been associated with basal cell nevus syndrome, esophageal squamous cell carcinoma, trichoepitheliomas, transitional cell carcinomas of the bladder, as well as holoprosencephaly. Alternative splicing results in multiple transcript variants encoding different isoforms. Additional splice variants have been described, but their full length sequences and biological validity cannot be determined currently. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  该基因编码的基因修补家族的一员。所编码的蛋白质为音猬,在胚胎结构的形成和在肿瘤发生牵连分泌的分子,以及在沙漠刺猬和印度刺猬蛋白受体。该基因作为肿瘤抑制。该基因突变已与基底细胞痣综合征,食管鳞状细胞癌,trichoepitheliomas,膀胱移行细胞癌相关的,以及holoprosencephaly。在多个转录剪接变异体导致编码不同亚型。附加剪接变体已被描述,但是它们的全长序列和生物有效性不能当前确定。 [由RefSeq的,2008年7月提供]
PTCH1基因(以及对应的蛋白质)的细胞分布位置:
PTCH1基因的本体(GO)信息:
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Basal Cell Nevus Syndrome | 0.612749107 | 117 | 4 | BeFree_CLINVAR_CTD_human_LHGDN_MGD_ORPHANET_UNIPROT |
| HOLOPROSENCEPHALY 7 | 0.360271442 | 3 | 6 | BeFree_CLINVAR_CTD_human_UNIPROT |
| Medulloblastoma | 0.2127677 | 38 | 0 | BeFree_CTD_human_LHGDN_MGD |
| BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 1 | 0.2 | 1 | 0 | MGD_UNIPROT |
| Basal cell carcinoma | 0.168323668 | 19 | 0 | CTD_human_GAD_LHGDN |
| Skin Neoplasms | 0.125819831 | 6 | 0 | BeFree_CTD_human_GAD |
| Pancreatic Neoplasm | 0.122909916 | 4 | 0 | BeFree_CTD_human_GAD |
| Cleft Lip | 0.122638474 | 3 | 0 | BeFree_CTD_human_GAD |
| Cleft Palate | 0.122367032 | 2 | 0 | CTD_human_GAD |
| Pulmonary function (finding) | 0.122367032 | 2 | 1 | GAD_GWASCAT |
| Rhabdomyosarcoma | 0.122171535 | 9 | 0 | BeFree_CTD_human |
| Holoprosencephaly | 0.121085767 | 4 | 1 | BeFree_CLINVAR |
| Neuroectodermal Tumor, Primitive | 0.120542884 | 3 | 0 | BeFree_CTD_human |
| Brain Neoplasms | 0.12 | 1 | 0 | CTD_human |
| HIV Infections | 0.12 | 1 | 0 | CTD_human |
| Craniofacial Abnormalities | 0.12 | 2 | 0 | CTD_human |
| Lobar Holoprosencephaly | 0.12 | 0 | 0 | ORPHANET |
| Alobar Holoprosencephaly | 0.12 | 0 | 0 | ORPHANET |
| Semilobar Holoprosencephaly | 0.12 | 0 | 0 | ORPHANET |
| SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR | 0.12 | 0 | 0 | ORPHANET |
| Thyroid carcinoma | 0.025244094 | 93 | 1 | BeFree |
| Papillary thyroid carcinoma | 0.019815257 | 73 | 8 | BeFree |
| Experimental Organism Basal Cell Carcinoma | 0.015743629 | 58 | 0 | BeFree |
| Carcinogenesis | 0.012757768 | 47 | 0 | BeFree |
| Skin carcinoma | 0.012649486 | 7 | 0 | BeFree_GAD |
| Carcinoma, Papillary | 0.011953374 | 35 | 0 | BeFree_LHGDN |
| Malignant neoplasm of thyroid | 0.010857675 | 40 | 1 | BeFree |
| Oculo-dento-digital syndrome | 0.010043349 | 37 | 0 | BeFree |
| Mammary Neoplasms | 0.005720142 | 3 | 0 | BeFree_LHGDN |
| Colorectal Neoplasms | 0.005634266 | 3 | 0 | BeFree_GAD_LHGDN |
| Thyroid Neoplasm | 0.005428837 | 20 | 0 | BeFree |
| Odontogenic Tumors | 0.004353001 | 6 | 0 | BeFree_LHGDN |
| Ameloblastoma | 0.00408156 | 5 | 0 | BeFree_LHGDN |
| Malignant neoplasm of breast | 0.003995683 | 6 | 0 | BeFree_GAD |
| Follicular thyroid carcinoma | 0.003800186 | 14 | 7 | BeFree |
| Dermoid Cyst | 0.003538676 | 4 | 0 | BeFree_LHGDN |
| Thyroid Nodule | 0.003528744 | 13 | 1 | BeFree |
| Liver carcinoma | 0.003452799 | 4 | 0 | BeFree_GAD |
| Chondrosarcoma | 0.003267234 | 2 | 0 | BeFree_LHGDN |
| Odontogenic Cysts | 0.003267234 | 3 | 0 | BeFree_LHGDN |
| Neoplasm Metastasis | 0.003257302 | 12 | 0 | BeFree |
| Jaw Keratocyst | 0.003257302 | 12 | 0 | BeFree |
| fibroma | 0.002995792 | 2 | 0 | BeFree_LHGDN |
| Hyperglycemia | 0.002995792 | 1 | 0 | BeFree_LHGDN |
| West Syndrome | 0.002995792 | 1 | 0 | BeFree_LHGDN |
| Stomach Neoplasms | 0.002995792 | 2 | 0 | BeFree_LHGDN |
| Adenocarcinoma | 0.002909916 | 2 | 0 | BeFree_GAD |
| Adenoma | 0.002714419 | 10 | 0 | BeFree |
| Chronic Lymphocytic Leukemia | 0.002638474 | 2 | 0 | BeFree_GAD |
| Follicular adenoma | 0.002442977 | 9 | 0 | BeFree |
| Secondary malignant neoplasm of lymph node | 0.002442977 | 9 | 0 | BeFree |
| Liver neoplasms | 0.002367032 | 1 | 0 | GAD |
| Lung diseases | 0.002367032 | 1 | 0 | GAD |
| Sleep Apnea, Obstructive | 0.002367032 | 1 | 0 | GAD |
| Anaplastic thyroid carcinoma | 0.002171535 | 8 | 0 | BeFree |
| Keratocystic Odontogenic Tumor | 0.002171535 | 8 | 0 | BeFree |
| Squamous cell carcinoma | 0.001900093 | 7 | 0 | BeFree |
| Goiter | 0.001628651 | 6 | 0 | BeFree |
| Malignant neoplasm of stomach | 0.001628651 | 6 | 0 | BeFree |
| Thyroiditis | 0.001628651 | 6 | 0 | BeFree |
| Breast Carcinoma | 0.001628651 | 6 | 0 | BeFree |
| Anaplasia | 0.001357209 | 5 | 0 | BeFree |
| Colorectal Carcinoma | 0.001357209 | 5 | 0 | BeFree |
| melanoma | 0.001357209 | 5 | 1 | BeFree |
| Anaplastic carcinoma | 0.001357209 | 5 | 0 | BeFree |
| Pancreatic carcinoma | 0.001357209 | 5 | 0 | BeFree |
| Malignant neoplasm of pancreas | 0.001357209 | 5 | 0 | BeFree |
| Differentiated Thyroid Gland Carcinoma | 0.001357209 | 5 | 8 | BeFree |
| Colorectal Cancer | 0.001357209 | 5 | 0 | BeFree |
| Congenital Abnormality | 0.001085767 | 4 | 0 | BeFree |
| Malignant neoplasm of skin | 0.001085767 | 4 | 0 | BeFree |
| Neoplasms, Radiation-Induced | 0.001085767 | 4 | 0 | BeFree |
| Neuroblastoma | 0.001085767 | 4 | 0 | BeFree |
| Adenomatous Polyposis Coli | 0.001085767 | 4 | 0 | BeFree |
| Thyroid Diseases | 0.001085767 | 4 | 0 | BeFree |
| Thyroid Gland Follicular Adenoma | 0.001085767 | 4 | 0 | BeFree |
| Tumor Progression | 0.001085767 | 4 | 0 | BeFree |
| Undifferentiated carcinoma | 0.001085767 | 4 | 0 | BeFree |
| Central neuroblastoma | 0.001085767 | 4 | 0 | BeFree |
| Desmoplastic | 0.001085767 | 4 | 0 | BeFree |
| Non-Small Cell Lung Carcinoma | 0.000814326 | 3 | 0 | BeFree |
| Carcinoma, Transitional Cell | 0.000814326 | 3 | 0 | BeFree |
| Congenital chromosomal disease | 0.000814326 | 3 | 1 | BeFree |
| Cyst | 0.000814326 | 3 | 0 | BeFree |
| Dentigerous Cyst | 0.000814326 | 3 | 0 | BeFree |
| Ovarian Carcinoma | 0.000814326 | 3 | 0 | BeFree |
| Benign Neoplasm | 0.000814326 | 3 | 0 | BeFree |
| Cleft palate with cleft lip | 0.000814326 | 3 | 0 | BeFree |
| Taste bitter | 0.000814326 | 3 | 0 | BeFree |
| Medullary carcinoma of thyroid | 0.000814326 | 3 | 0 | BeFree |
| Stomach Carcinoma | 0.000814326 | 3 | 0 | BeFree |
| Alcoholic Intoxication, Chronic | 0.000542884 | 2 | 0 | BeFree |
| Renal Cell Carcinoma | 0.000542884 | 2 | 0 | BeFree |
| Down Syndrome | 0.000542884 | 2 | 0 | BeFree |
| Glioma | 0.000542884 | 2 | 0 | BeFree |
| Nodular Goiter | 0.000542884 | 2 | 0 | BeFree |
| Jaw Cysts | 0.000542884 | 2 | 0 | BeFree |
| Fibroid Tumor | 0.000542884 | 2 | 0 | BeFree |
| Nephroblastoma | 0.000542884 | 2 | 0 | BeFree |
| Nevus | 0.000542884 | 2 | 0 | BeFree |
| Melanocytic nevus | 0.000542884 | 2 | 0 | BeFree |
| Nodule | 0.000542884 | 2 | 1 | BeFree |
| Radicular Cyst | 0.000542884 | 2 | 0 | BeFree |
| Uterine Fibroids | 0.000542884 | 2 | 0 | BeFree |
| Xeroderma Pigmentosum | 0.000542884 | 2 | 0 | BeFree |
| Hallopeau-Siemens Disease | 0.000542884 | 2 | 0 | BeFree |
| Adenocarcinoma, Oxyphilic | 0.000542884 | 2 | 0 | BeFree |
| Rhabdomyosarcoma, Embryonal | 0.000542884 | 2 | 0 | BeFree |
| Brachydactyly | 0.000542884 | 2 | 0 | BeFree |
| Color blindness | 0.000542884 | 2 | 0 | BeFree |
| Medulloblastoma, Childhood | 0.000542884 | 2 | 0 | BeFree |
| Adenomatous goiter | 0.000542884 | 2 | 0 | BeFree |
| Fetal rhabdomyoma | 0.000542884 | 2 | 0 | BeFree |
| Multinodular goiter | 0.000542884 | 2 | 0 | BeFree |
| Papillary neoplasm | 0.000542884 | 2 | 0 | BeFree |
| Hashimoto Disease | 0.000542884 | 2 | 0 | BeFree |
| Epithelial ovarian cancer | 0.000542884 | 2 | 0 | BeFree |
| ovarian neoplasm | 0.000542884 | 2 | 0 | BeFree |
| Nevus cell nevus | 0.000542884 | 2 | 0 | BeFree |
| Squamous cell carcinoma of the head and neck | 0.000542884 | 2 | 0 | BeFree |
| Poorly Differentiated Thyroid Carcinoma | 0.000542884 | 2 | 0 | BeFree |
| Benign melanocytic nevus | 0.000542884 | 2 | 0 | BeFree |
| Glioblastoma Multiforme | 0.000542884 | 2 | 0 | BeFree |
| Basal cell carcinoma, multiple | 0.000542884 | 2 | 0 | BeFree |
| Melanocytic nevus of skin | 0.000542884 | 2 | 0 | BeFree |
| 9q22.3 Microdeletion | 0.000542884 | 2 | 0 | BeFree |
| Tumors in children | 0.000542884 | 2 | 0 | BeFree |
| Alzheimer's Disease | 0.000271442 | 1 | 0 | BeFree |
| Supravalvular aortic stenosis | 0.000271442 | 1 | 0 | BeFree |
| Malignant neoplasm of urinary bladder | 0.000271442 | 1 | 0 | BeFree |
| Noninfiltrating Intraductal Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Carcinosarcoma | 0.000271442 | 1 | 0 | BeFree |
| Cerebellar Neoplasms | 0.000271442 | 1 | 0 | BeFree |
| Malignant tumor of cervix | 0.000271442 | 1 | 0 | BeFree |
| Developmental Disabilities | 0.000271442 | 1 | 0 | BeFree |
| Chondromatosis, Synovial | 0.000271442 | 1 | 0 | BeFree |
| Endometriosis | 0.000271442 | 1 | 0 | BeFree |
| Glioblastoma | 0.000271442 | 1 | 0 | BeFree |
| Kidney Neoplasm | 0.000271442 | 1 | 0 | BeFree |
| leukemia | 0.000271442 | 1 | 0 | BeFree |
| Myeloid Leukemia, Chronic | 0.000271442 | 1 | 0 | BeFree |
| Multiple Endocrine Neoplasia Type 2b | 0.000271442 | 1 | 0 | BeFree |
| Multiple Myeloma | 0.000271442 | 1 | 0 | BeFree |
| Synovial osteochondromatosis | 0.000271442 | 1 | 0 | BeFree |
| Pancreatic Pseudocyst | 0.000271442 | 1 | 0 | BeFree |
| Prostatic Neoplasms | 0.000271442 | 1 | 0 | BeFree |
| Reoviridae Infections | 0.000271442 | 1 | 0 | BeFree |
| Rhabdomyoma | 0.000271442 | 1 | 0 | BeFree |
| Thecoma | 0.000271442 | 1 | 0 | BeFree |
| Spina Bifida Occulta | 0.000271442 | 1 | 0 | BeFree |
| Pancreatitis, Chronic | 0.000271442 | 1 | 0 | BeFree |
| Ovarian Fibromata | 0.000271442 | 1 | 0 | BeFree |
| Cutaneous Melanoma | 0.000271442 | 1 | 1 | BeFree |
| Endometriosis of ovary | 0.000271442 | 1 | 0 | BeFree |
| Autoimmune thyroid disease | 0.000271442 | 1 | 0 | BeFree |
| Adenocarcinoma, Tubular | 0.000271442 | 1 | 0 | BeFree |
| Subependymal Giant Cell Astrocytoma | 0.000271442 | 1 | 0 | BeFree |
| Hepatoblastoma | 0.000271442 | 1 | 0 | BeFree |
| Embryonal Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Adrenocortical carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Medullary carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Cervical Intraepithelial Neoplasia | 0.000271442 | 1 | 0 | BeFree |
| Niemann-Pick Disease, Type C | 0.000271442 | 1 | 0 | BeFree |
| Congenital defects | 0.000271442 | 1 | 0 | BeFree |
| Malignant neoplasm of lung | 0.000271442 | 1 | 0 | BeFree |
| Isochromosomes | 0.000271442 | 1 | 0 | BeFree |
| Robinow Syndrome | 0.000271442 | 1 | 0 | BeFree |
| Pallister-Hall syndrome | 0.000271442 | 1 | 0 | BeFree |
| Turcot syndrome (disorder) | 0.000271442 | 1 | 0 | BeFree |
| Transitional cell carcinoma of bladder | 0.000271442 | 1 | 0 | BeFree |
| Extraosseous Ewings sarcoma-primitive neuroepithelial tumor | 0.000271442 | 1 | 0 | BeFree |
| Solid tumour | 0.000271442 | 1 | 0 | BeFree |
| Adenocarcinoma of pancreas | 0.000271442 | 1 | 0 | BeFree |
| Cervix carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Odontogenic tumor, benign | 0.000271442 | 1 | 0 | BeFree |
| Calcifying Epithelial Odontogenic Tumor | 0.000271442 | 1 | 0 | BeFree |
| Juvenile polyposis syndrome | 0.000271442 | 1 | 0 | BeFree |
| Malignant mesothelioma | 0.000271442 | 1 | 0 | BeFree |
| Trichoepithelioma | 0.000271442 | 1 | 0 | BeFree |
| Mandibuloacral dysostosis | 0.000271442 | 1 | 0 | BeFree |
| Trisomy 12 | 0.000271442 | 1 | 0 | BeFree |
| Follicular neoplasm | 0.000271442 | 1 | 0 | BeFree |
| Benign neurologic neoplasms | 0.000271442 | 1 | 0 | BeFree |
| Recurrent tumor | 0.000271442 | 1 | 0 | BeFree |
| Multiple self-healing squamous epithelioma | 0.000271442 | 1 | 0 | BeFree |
| Squamous cell carcinoma of skin | 0.000271442 | 1 | 0 | BeFree |
| Stromal tumor of ovary | 0.000271442 | 1 | 0 | BeFree |
| Carcinoma of lung | 0.000271442 | 1 | 0 | BeFree |
| Ewings sarcoma-primitive neuroectodermal tumor (PNET) | 0.000271442 | 1 | 0 | BeFree |
| Carcinoma of bladder | 0.000271442 | 1 | 0 | BeFree |
| cervical cancer squamous cell | 0.000271442 | 1 | 0 | BeFree |
| Desmoplastic Medulloblastoma | 0.000271442 | 1 | 0 | BeFree |
| Basal Cell Cancer | 0.000271442 | 1 | 0 | BeFree |
| trisomy 2 | 0.000271442 | 1 | 0 | BeFree |
| Undifferentiated (Embryonal) Sarcoma | 0.000271442 | 1 | 0 | BeFree |
| Superficial basal cell carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Spina Bifida, Open | 0.000271442 | 1 | 0 | BeFree |
| Autoimmune thyroiditis | 0.000271442 | 1 | 0 | BeFree |
| cancer recurrence | 0.000271442 | 1 | 0 | BeFree |
| Malignant neoplasm of ovary | 0.000271442 | 1 | 0 | BeFree |
| Ductal Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Basaloid squamous cell carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Traditional Serrated Adenoma | 0.000271442 | 1 | 0 | BeFree |
| Non-toxic nodular goiter | 0.000271442 | 1 | 0 | BeFree |
| Nevoid Basal Cell Carcinoma Syndrome Associated Medulloblastoma | 0.000271442 | 1 | 0 | BeFree |
| Pancreatic Ductal Adenocarcinoma | 0.000271442 | 1 | 0 | BeFree |
| Mature Teratoma | 0.000271442 | 1 | 0 | BeFree |
| BRACHYDACTYLY, TYPE A1 (disorder) | 0.000271442 | 1 | 1 | BeFree |
| Urothelial Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Diffuse Intrinsic Pontine Glioma | 0.000271442 | 1 | 0 | BeFree |
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