HGSNAT sirna
HGSNAT siRNA (Human)
NCBI and Uniprot Product Information
NCBI Description
This gene encodes a lysosomal acetyltransferase, which is one of several enzymes involved in the lysosomal degradation of heparin sulfate. Mutations in this gene are associated with Sanfilippo syndrome C, one type of the lysosomal storage disease mucopolysaccaridosis III, which results from impaired degradation of heparan sulfate. [provided by RefSeq, Jan 2009]
Uniprot Description
HGSNAT: Lysosomal acetyltransferase that acetylates the non- reducing terminal alpha-glucosamine residue of intralysosomal heparin or heparan sulfate, converting it into a substrate for luminal alpha-N-acetyl glucosaminidase. Defects in HGSNAT are the cause of mucopolysaccharidosis type 3C (MPS3C); also known as Sanfilippo C syndrome. MPS3C is a form of mucopolysaccharidosis type 3, an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate. MPS3 is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life. 2 isoforms of the human protein are produced by alternative initiation.
Protein type: Membrane protein, multi-pass; Glycan Metabolism - glycosaminoglycan degradation; Acetyltransferase; Membrane protein, integral; EC 2.3.1.78
Chromosomal Location of Human Ortholog: 8p11.1
Cellular Component: lysosomal membrane; integral to membrane
Molecular Function: heparan-alpha-glucosaminide N-acetyltransferase activity; transferase activity, transferring acyl groups
Biological Process: glycosaminoglycan catabolic process; lysosomal transport; glycosaminoglycan metabolic process; carbohydrate metabolic process; pathogenesis; protein oligomerization
Disease: Mucopolysaccharidosis, Type Iiic
Research Articles on HGSNAT
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Product Notes
The HGSNAT hgsnat (Catalog #AAA8208475) is a siRNA produced from Synthetic and is intended for research purposes only. The product is available for immediate purchase. The HGSNAT siRNA (Human) reacts with Human and may cross-react with other species as described in the data sheet. AAA Biotech's HGSNAT can be used in a range of immunoassay formats including, but not limited to, RNA Interference (RNAi). Researchers should empirically determine the suitability of the HGSNAT hgsnat 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 "HGSNAT, siRNA" 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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