|
ORF cDNA clones
|
CRISPR / TALEN
|
Lentivirus
|
AAV
|
TALE-TF
|
ORF knockin clones
|
|
Antibody
|
Proteins
|
miRNA target clones
|
qPCR primers
|
shRNA clones
|
miRNA products
|
Promoter clones
|
Validated All-in-One™ qPCR Primer for PTCH1(NM_000264.4) Search again
Product ID:
HQP015530
(click here to view gene annotation page)
Powered by BiozSpecies:
Human
Symbol:
Alias:
BCNS, BCNS1, NBCCS, PTC, PTC1, PTCH
Gene Description:
patched 1
Target Gene Accession:
NM_000264.4(click here to view gene page)
Estimated Delivery:
Approximately 1-3 weeks, but may vary. Please email sales@genecopoeia.com or call 301-762-0888 to confirm ETA.
Important Note:
By default, qPCR primer pairs are designed to measure the expression level of the splice variant (accession number) you selected for this gene WITHOUT consideration of other possible variants of this gene. If this gene has multiple variants, and you would like to measure the expression levels of one particular variant, multiple variants, or all variants, please contact us for a custom service project at inquiry@genecopoeia.com.
Validated result:
|
|
| A | B |
|
Each All-in-One™ qPCR Primer is experimentally validated to yield a single dissociation curve peak and to generate a single amplification of the correct size for the targeted gene. A cDNA Pool, containing reverse transcript products of 8 different human tissue total RNA(Liver, Testis,Muscle,Thyroid,Brain,Spleen,Stomach,Small Intestine)),was used as the qPCR validation template. qPCR was performed using 0.2 µM primer with 2XAll-in-One™ qPCR Mix (Catalog#: QP001,QP002,QP004,QP005). Reactions were incubated for 10min. at 95°C, followed by 40 cycles of 95°C for 10 sec.; 60°C, 20 sec. and 72°C, 15sec. using Bio-Rad iQ5™ Instrument. At the end of the last cycle, temperature was increased from 72 to 95°C to produce a melting curve. Panel A: Validated Result for Amplification Curve; Panel B: Validated Result for Melting Curve. |
|
Summary
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].
Gene References into function
- No germline PTCH mutations have been identified in 8 subjects with Birt-Hogg-Dube syndrome, suggesting that PTCH should be excluded as a candidate gene for BHD.
- Mutations for basal cell carcinoma (BCC), were screened in 15 cases of sporadic BCCs that developed in sun-exposed skin region in a Korean population
- results suggest that the Ptc tumour suppressor functions normally as a transmembrane molecular transporter, which acts indirectly to inhibit Smo activity
- Patched expression in human astrocytic tumors inversely correlates with histological malignancy
- odontogenic keratocysts arise with heterozygous mutations of the gene
- The patched polymorphism Pro1315Leu (C3944T) may modulate the association between use of oral contraceptives and breast cancer risk
- Nineteen novel mutations and five new polymorphisms were identified
- mutations are probably related not only to basal cell nevus-associated odontogenic keratocysts but also to sporadic odontgenic keratocysts
- thirteen novel mutations identified in the mutational screening of nevoid basal cell carcinoma syndrome patients in Italy
- cDNA microarray analysis performed on cell lines derived from ovarian dermoid cysts did not show any significant alteration in the expression of the analyzed target genes of PTCH signaling.
- Papillary carcinomas with high RET/PTC1 expression showed an association trend for large tumor size.
- No phenotype-genotype relationships were found in the Japanese nevoid basal cell carcinoma syndrome patients
- Data show that in both human and mouse a novel Patched homolog 1 first exon (1C) is expressed.
- ptc1 mutations and truncation are responsible for the majority of basal cell carcinoma (BCC) cases.
- 9 new mutations wew found: c.1436T>G p.L479R; c.1138G>T p.E380X; c.323_324ins2; c.2011_2012dup; c.2535_2536dup; c.2577_2583del, c.3000_3005del; c.3050_3051del; & c.6552A>T.
- Seven isoforms of human PTCH mRNA were identified.
- Elevated expression of hedgehog target genes human patched gene 1 (PTCH1) or Gli1 occurs in 63 of the 99 primary gastric cancers.
- analysis of missense mutations in the PTCH gene which may be responsible for Nevoid Basal Cell Carcinoma Syndrome
- possible relationship between the CGG8 allele in PTCH1 and the risk for ameloblastoma
- Isoforms - novel exon, exon 12b, was specifically expressed in the brain and heart, especially in the cerebellum. Also, disease-associated aberrant splicings found in two patients with nevoid basal cell carcinoma syndrome.
- Patched-expressing cells have been identified among endodermally lineage-restricted, murine embryonic stem cells as well as in livers of fetal and adult Ptc-lacZ mice.
- analysis of PTCH mutations in nevoid basal cell carcinoma syndrome [review]
- Our data show that MC1R and PTCH variants are associated with basal cell carcinoma (BCC) risk in the French population.
- Germline mutations on PTCH can cause isolated odontogenic cyst, and this PTCH gene responsible for nevoid basal cell carcinoma syndrome plays an important role in the formation of odontogenic cyst.
- alteration of both p53 and PTCH genes is likely to play a role in radiation-induced basal cell carcinogenesis
- novel insertion mutation in exon 6 of the PTCH gene was identified in a Korean family with naevoid basal cell carcinoma syndrome
- aberrant expressions of PTCH and Smo were common in pancreatic carcinoma tissues & were associated with low-level differentiation of tumor tissue & hyperglycemia; this indicated that these molecules played a fundamental role in pancreas tumorigenesis
- the upstream part of the Hedgehog pathway involving Hedgehog interaction with Patched, regulation of Smoothened by Patched, and Smoothened enrichment at the plasma membrane is highly conserved between Drosophila and humans
- defects are associated with the pathogenesis of syndromic as well as a subset of non-syndromic keratocysts
- Patched-1 containing exon 12b is a dominant negative isoform and is expressed in medulloblastomas
- Mutation screening identified a novel nonsense mutation in PTCH (c.1136C > G; p.Ser383X), the gene associated with Gorlin syndrome.
- Reduced expression of PTCH is associated with breast cancer
- Shh-Ptch1-Gli1 signaling pathway may play a role in the progression of colorectal tumor.
- Patched gene is epigenetically regulated in ovarian dermoids and fibromas, but not in basocellular carcinomas.
- PTCH mutations are not mainly involved in the pathogenesis of sporadic trichoblastomas
- a (UV-) mutated PTCH gene is important for sporadic BCC formation independent of clinical phenotype and the IVS16-80G/C and/or IVS17+21G/A SNP site might be important for tumorigenesis in certain BCC patients
- A patient with nevoid basal-cell carcinoma syndrome and West syndrome. The patient had a heterozygous mutation (insertion of TGGC) in the PTCH gene.
- prevalence of PTCH and p53 mutations for basal cell carcinoma is 63% and 46% in psoralen /UVA associated cancer
- A novel PTCH1 mutation in a patient of nevoid basal cell carcinoma syndrome.
- there was no evidence of methylation in the PTCH1-1B promoter in the MB cases examined, nor was there methylation in the control cerebellum samples.
- one 3-bp deletion in PTCH gene was the cause of nevoid basal cell carcinoma in a Chinese family through affecting the conformation and function of PTCH protein.
- Frequent germline PTCH mutations detected in this series provide further evidence for the crucial role of PTCH in the pathogenesis of nevoid basal cell carcinoma syndrome in Chinese.
- A novel germ-line mutation of the PTCH1 gene in a Japanese family with nevoid basal cell carcinoma syndrome is reported.
- mutations are frequent in PTCH1 in sporadic and nevoid basal cell carcinoma syndrome-associated keratocystic odontogenic tumors
- PTCH is involved in early stage tumor development and the Hh pathway in Chinese HCC is activated by ligand expression but not by mutation.
- Constitutive activation of the hedgehog signaling pathway in chondrosarcoma is rarely caused by PTCH-1 mutation.
- The physiological impact of constitutive heterozygous PATCHED mutations in primary human keratinocytes; mechanism of haploinsufficiency leading to cancer proneness.
- Hh target genes GLI1 and PTCH1 are not expressed in lesional psoriatic skin
- azathioprine exposure may be associated with PTCH mutations
- study reports three cases of naevoid basal cell carcinoma syndrome in a family with two mutations and one single nucleotide polymorphism in PTCH1