Human, Mouse Patched ELISA Kit | PTCH1 elisa kit
Patched Colorimetric Cell-Based ELISA Kit
NCBI and Uniprot Product Information
NCBI Description
This gene encodes a member of the patched family of proteins and a component of the hedgehog signaling pathway. Hedgehog signaling is important in embryonic development and tumorigenesis. The encoded protein is the receptor for the secreted hedgehog ligands, which include sonic hedgehog, indian hedgehog and desert hedgehog. Following binding by one of the hedgehog ligands, the encoded protein is trafficked away from the primary cilium, relieving inhibition of the G-protein-coupled receptor smoothened, which results in activation of downstream signaling. Mutations of this gene have been associated with basal cell nevus syndrome and holoprosencephaly. [provided by RefSeq, Aug 2017]
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: Cell cycle regulation; Membrane protein, integral; Membrane protein, multi-pass; Tumor suppressor
Chromosomal Location of Human Ortholog: 9q22.32
Cellular Component: caveola; Golgi apparatus; integral component of membrane; intracellular membrane-bound organelle; midbody; nucleus; perinuclear region of cytoplasm; plasma membrane; postsynaptic density
Molecular Function: cholesterol binding; cyclin binding; hedgehog receptor activity; heparin binding; patched binding; protein binding; protein complex binding; smoothened binding
Biological Process: brain development; branching involved in ureteric bud morphogenesis; cell fate determination; dorsal/ventral pattern formation; embryonic limb morphogenesis; embryonic organ development; epidermal cell fate specification; glucose homeostasis; heart morphogenesis; hindlimb morphogenesis; in utero embryonic development; keratinocyte proliferation; limb morphogenesis; negative regulation of cell division; negative regulation of epithelial cell proliferation; negative regulation of multicellular organism growth; negative regulation of osteoblast differentiation; negative regulation of smoothened signaling pathway; negative regulation of transcription factor activity; negative regulation of transcription from RNA polymerase II promoter; neural plate pattern formation; neural tube closure; neural tube patterning; organ morphogenesis; pharyngeal system development; positive regulation of epidermal cell differentiation; positive regulation of transcription, DNA-templated; prostate gland development; protein processing; regulation of mitotic cell cycle; regulation of protein localization; regulation of smoothened signaling pathway; response to chlorate; response to drug; response to estradiol; response to mechanical stimulus; response to retinoic acid; smoothened signaling pathway; spinal cord motor neuron differentiation
Disease: Basal Cell Carcinoma, Susceptibility To, 1; Basal Cell Nevus Syndrome; Holoprosencephaly 7
Research Articles on PTCH1
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Product Notes
The Human, Mouse PTCH1 ptch1 (Catalog #AAA9500462) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA9500462 ELISA Kit recognizes Human, Mouse PTCH1. It is sometimes possible for the material contained within the vial of "Patched, ELISA Kit" 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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