Testing Data
Rabbit EXT1 Polyclonal Antibody | anti-EXT1 antibody
Anti-EXT1 Antibody
Western blot analysis: 1:200-1:1,000
Optimal dilutions/concentrations should be determined by the end user
Testing Data
Testing Data
NCBI and Uniprot Product Information
NCBI Description
This gene encodes an endoplasmic reticulum-resident type II transmembrane glycosyltransferase involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type I form of multiple exostoses. [provided by RefSeq, Jul 2008]
Uniprot Description
EXT1: Glycosyltransferase required for the biosynthesis of heparan-sulfate. The EXT1/EXT2 complex possesses substantially higher glycosyltransferase activity than EXT1 or EXT2 alone. Appears to be a tumor suppressor. Defects in EXT1 are a cause of hereditary multiple exostoses type 1 (EXT1). EXT is a genetically heterogeneous bone disorder caused by genes segregating on human chromosomes 8, 11, and 19 and designated EXT1, EXT2 and EXT3 respectively. EXT is a dominantly inherited skeletal disorder primarily affecting endochondral bone during growth. The disease is characterized by formation of numerous cartilage-capped, benign bone tumors (osteocartilaginous exostoses or osteochondromas) that are often accompanied by skeletal deformities and short stature. In a small percentage of cases exostoses have exhibited malignant transformation resulting in an osteosarcoma or chondrosarcoma. Osteochondromas development can also occur as a sporadic event. Defects in EXT1 are a cause of tricho-rhino-phalangeal syndrome type 2 (TRPS2). A syndrome that combines the clinical features of trichorhinophalangeal syndrome type 1 and multiple exostoses type 1. Affected individuals manifest multiple dysmorphic facial features including large, laterally protruding ears, a bulbous nose, an elongated upper lip, as well as sparse scalp hair, winged scapulae, multiple cartilaginous exostoses, redundant skin, and mental retardation. A chromosomal aberration resulting in the loss of functional copies of TRPS1 and EXT1 has been found in TRPS2 patients. Defects in EXT1 are a cause of chondrosarcoma (CHDSA). It is a malignant neoplasm derived from cartilage cells. Chondrosarcomas range from slow-growing non-metastasizing lesions to highly aggressive metastasizing sarcomas. Belongs to the glycosyltransferase 47 family.
Protein type: EC 2.4.1.224; Membrane protein, integral; EC 2.4.1.225; Tumor suppressor; Transferase; Glycan Metabolism - heparan sulfate biosynthesis; Motility/polarity/chemotaxis
Chromosomal Location of Human Ortholog: 8q24.11
Cellular Component: Golgi membrane; Golgi apparatus; endoplasmic reticulum membrane; endoplasmic reticulum; integral to membrane; integral to endoplasmic reticulum membrane
Molecular Function: acetylglucosaminyltransferase activity; transferase activity, transferring glycosyl groups; protein homodimerization activity; glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity; glucuronosyltransferase activity; protein heterodimerization activity; metal ion binding; N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity; heparan sulfate N-acetylglucosaminyltransferase activity
Biological Process: axon guidance; ossification; cellular polysaccharide biosynthetic process; glycosaminoglycan metabolic process; olfactory bulb development; protein amino acid glycosylation; pathogenesis; gastrulation; signal transduction; glycosaminoglycan biosynthetic process; heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process; carbohydrate metabolic process; heparan sulfate proteoglycan biosynthetic process; mesoderm development; skeletal development; endoderm development
Disease: Chondrosarcoma; Exostoses, Multiple, Type I
Research Articles on EXT1
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Product Notes
The EXT1 ext1 (Catalog #AAA416949) is an Antibody produced from Rabbit and is intended for research purposes only. The product is available for immediate purchase. The Anti-EXT1 Antibody reacts with Human. Predicted: Mouse, Rat and may cross-react with other species as described in the data sheet. AAA Biotech's EXT1 can be used in a range of immunoassay formats including, but not limited to, ELISA (EIA), Western Blot (WB). ELISA titer: 1:20,000-1:80,000 Western blot analysis: 1:200-1:1,000 Optimal dilutions/concentrations should be determined by the end user. Researchers should empirically determine the suitability of the EXT1 ext1 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 "EXT1, Polyclonal 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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