Immunofluorescence (IF)
(Immunofluorescent staining of COS7 cells transiently transfected with recombinant PTCH1 protein using PTCH1 antibody)
Mouse PTCH1 Monoclonal Antibody | anti-PTCH1 antibody
PTCH1 antibody
IHC: 1:50
WB: 1:500
Immunofluorescence (IF)
(Immunofluorescent staining of COS7 cells transiently transfected with recombinant PTCH1 protein using PTCH1 antibody)
Immunofluorescence (IF)
(Immunofluorescent staining of COS7 cells transiently transfected with recombinant PTCH1 protein using PTCH1 antibody)
Western Blot (WB)
(Western Blot analysis of HEK293T cell lysates (5 ug) transfected with either recombinant PTCH1 protein (Right) or empty vector (Left) detected with PTCH1 antibody)
Western Blot (WB)
(Western Blot analysis of HEK293T cell lysates (5 ug) transfected with either recombinant PTCH1 protein (Right) or empty vector (Left) detected with PTCH1 antibody)
Immunohistochemistry (IHC)
(Immunohistochemical analysis of PTCH1 protein in paraffin embedded Human Kidney tissue using PTCH1 antibody)
Immunohistochemistry (IHC)
(Immunohistochemical analysis of PTCH1 protein in paraffin embedded Human Kidney tissue using PTCH1 antibody)
NCBI and Uniprot Product Information
NCBI Description
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]
Uniprot Description
PTCH1: a multi-pass membrane protein member of the ?patched? family that acts as a receptor for sonic hedgehog (SHH), indian hedgehog (IHH) and desert hedgehog (DHH). Associates with the smoothened protein (SMO) to transduce the hedgehog protein?s signal. Seems to have a tumor suppressor function, as inactivation of this protein is probably a necessary, if not sufficient step for tumorigenesis. Interacts with SNX17. Expressed in tumor cells but not in normal skin. In the embryo, found in all major target tissues of sonic hedgehog, such as the ventral neural tube, somites, and tissues surrounding the zone of polarizing activity of the limb bud. Defects in PTCH1 are the cause of basal cell nevus syndrome (BCNS), also known as Gorlin syndrome. BCNS is an autosomal dominant disease characterized by nevoid basal cell carcinomas and developmental abnormalities such as rib and craniofacial alterations, polydactyly, syndactyly, and spina bifida. In addition, the patients suffer from a multitude of tumors like basal cell carcinomas, fibromas of the ovaries and heart, cysts of the skin, jaws and mesentery, as well as medulloblastomas and meningiomas. PTCH1 defects is also the cause of holoprosencephaly, the most common structural anomaly of the brain, in which the developing forebrain fails to correctly separate into right and left hemispheres.
Protein type: Tumor suppressor; Cell cycle regulation; Membrane protein, integral; Membrane protein, multi-pass
Chromosomal Location of Human Ortholog: 9q22.3
Cellular Component: Golgi apparatus; intracellular membrane-bound organelle; perinuclear region of cytoplasm; postsynaptic density; integral to membrane; plasma membrane; midbody; caveola
Molecular Function: heparin binding; cyclin binding; protein binding; hedgehog receptor activity; protein complex binding; cholesterol binding; patched binding; smoothened binding
Biological Process: heart morphogenesis; hindlimb morphogenesis; epidermis development; regulation of mitotic cell cycle; negative regulation of transcription from RNA polymerase II promoter; glucose homeostasis; response to chlorate; response to estradiol stimulus; regulation of protein localization; negative regulation of osteoblast differentiation; negative regulation of epithelial cell proliferation; embryonic limb morphogenesis; response to drug; smoothened signaling pathway; response to retinoic acid; negative regulation of multicellular organism growth; pharyngeal system development; in utero embryonic development; negative regulation of transcription factor activity; neural tube patterning; negative regulation of cell division; keratinocyte proliferation; spinal cord motor neuron differentiation; limb morphogenesis; organ morphogenesis; dorsal/ventral pattern formation; response to mechanical stimulus; ureteric bud branching; neural plate pattern formation; negative regulation of smoothened signaling pathway; neural tube closure; embryonic organ development; protein processing; brain development; regulation of smoothened signaling pathway
Disease: Holoprosencephaly 7; Basal Cell Nevus Syndrome; Basal Cell Carcinoma, Susceptibility To, 1
Research Articles on PTCH1
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Product Notes
The PTCH1 ptch1 (Catalog #AAA832597) is an Antibody produced from Mouse and is intended for research purposes only. The product is available for immediate purchase. AAA Biotech's PTCH1 can be used in a range of immunoassay formats including, but not limited to, Immunofluorescence (IF), Immunohistochemistry (IHC), Western Blot (WB). IF: 1:100 IHC: 1:50 WB: 1:500. Researchers should empirically determine the suitability of the PTCH1 ptch1 for an application not listed in the data sheet. Researchers commonly develop new applications and it is an integral, important part of the investigative research process. It is sometimes possible for the material contained within the vial of "PTCH1, Monoclonal Antibody" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
All products in the AAA Biotech catalog are strictly for research-use only, and are absolutely not suitable for use in any sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a product from AAA Biotech, you are explicitly certifying that said products will be properly tested and used in line with industry standard. AAA Biotech and its authorized distribution partners reserve the right to refuse to fulfill any order if we have any indication that a purchaser may be intending to use a product outside of our accepted criteria.Disclaimer
Though we do strive to guarantee the information represented in this datasheet, AAA Biotech cannot be held responsible for any oversights or imprecisions. AAA Biotech reserves the right to adjust any aspect of this datasheet at any time and without notice. It is the responsibility of the customer to inform AAA Biotech of any product performance issues observed or experienced within 30 days of receipt of said product. To see additional details on this or any of our other policies, please see our Terms & Conditions page.Item has been added to Shopping Cart
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