Rabbit anti-Human N-acetylgalactosamine-6-sulfatase Polyclonal Antibody | anti-GALNS antibody
Rabbit anti-human N-acetylgalactosamine-6-sulfatase polyclonal Antibody, Biotin conjugated
Constituents: 50% Glycerol, 0.01M PBS, PH 7.4
NCBI and Uniprot Product Information
NCBI Description
This gene encodes N-acetylgalactosamine-6-sulfatase which is a lysosomal exohydrolase required for the degradation of the glycosaminoglycans, keratan sulfate, and chondroitin 6-sulfate. Sequence alterations including point, missense and nonsense mutations, as well as those that affect splicing, result in a deficiency of this enzyme. Deficiencies of this enzyme lead to Morquio A syndrome, a lysosomal storage disorder. [provided by RefSeq, Jul 2008]
Uniprot Description
GALNS: Defects in GALNS are the cause of mucopolysaccharidosis type 4A (MPS4A); also known as Morquio A syndrome. MPS4A is a form of mucopolysaccharidosis type 4, an autosomal recessive lysosomal storage disease characterized by intracellular accumulation of keratan sulfate and chondroitin-6-sulfate. Key clinical features include short stature, skeletal dysplasia, dental anomalies, and corneal clouding. Intelligence is normal and there is no direct central nervous system involvement, although the skeletal changes may result in neurologic complications. There is variable severity, but patients with the severe phenotype usually do not survive past the second or third decade of life. Belongs to the sulfatase family.
Protein type: Glycan Metabolism - glycosaminoglycan degradation; Hydrolase; EC 3.1.6.4
Chromosomal Location of Human Ortholog: 16q24.3
Cellular Component: lysosomal lumen
Molecular Function: metal ion binding; N-acetylgalactosamine-4-sulfatase activity; N-acetylgalactosamine-6-sulfatase activity; sulfuric ester hydrolase activity
Biological Process: carbohydrate metabolic process; glycosaminoglycan metabolic process; keratan sulfate catabolic process; keratan sulfate metabolic process
Disease: Mucopolysaccharidosis, Type Iva
Research Articles on GALNS
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Product Notes
The GALNS galns (Catalog #AAA1490495) is an Antibody produced from Rabbit and is intended for research purposes only. The product is available for immediate purchase. The Rabbit anti-human N-acetylgalactosamine-6-sulfatase polyclonal Antibody, Biotin conjugated reacts with Human and may cross-react with other species as described in the data sheet. AAA Biotech's N-acetylgalactosamine-6-sulfatase can be used in a range of immunoassay formats including, but not limited to, ELISA (EIA). Researchers should empirically determine the suitability of the GALNS galns 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 "N-acetylgalactosamine-6-sulfatase, 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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