Mouse N-Acetylglucosamine-1-Phosphotransferase Subunits Alpha/Beta (GNPTAB) ELISA Kit | GNPTAB elisa kit
Mouse N-Acetylglucosamine-1-Phosphotransferase Subunits Alpha/Beta (GNPTAB) ELISA Kit
NCBI and Uniprot Product Information
Uniprot Description
GNPTAB: Catalyzes the formation of mannose 6-phosphate (M6P) markers on high mannose type oligosaccharides in the Golgi apparatus. M6P residues are required to bind to the M6P receptors (MPR), which mediate the vesicular transport of lysosomal enzymes to the endosomal/prelysosomal compartment. Defects in GNPTAB are the cause of mucolipidosis type II (MLII); also known as inclusion cell disease or I- cell disease (ICD). MLII is a fatal, autosomal recessive, lysosomal storage disorder characterized by severe clinical and radiologic features, peculiar fibroblast inclusions, and no excessive mucopolysacchariduria. Congenital dislocation of the hip, thoracic deformities, hernia, and hyperplastic gums are evident soon after birth. Defects in GNPTAB are the cause of mucolipidosis type III complementation group A (MLIIIA); also known as variant pseudo-Hurler polydystrophy. MLIIIA is an autosomal recessive disease of lysosomal enzyme targeting. Clinically MLIII is characterized by restricted joint mobility, skeletal dysplasia, and short stature. Mildly coarsened facial features and thickening of the skin have been described. Cardiac valvular disease and corneal clouding may also occur. Half of the reported patients show learning disabilities or mental retardation. Belongs to the stealth family. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: EC 2.7.8.17; Transferase; Membrane protein, integral
Cellular Component: Golgi apparatus; Golgi membrane
Molecular Function: UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity
Biological Process: carbohydrate phosphorylation; lysosome organization and biogenesis; N-glycan processing to lysosome; protein secretion; secretion of lysosomal enzymes
Research Articles on GNPTAB
Similar Products
Product Notes
The Mouse GNPTAB gnptab (Catalog #AAA9371095) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA9371095 ELISA Kit recognizes Mouse GNPTAB. It is sometimes possible for the material contained within the vial of "N-Acetylglucosamine-1-Phosphotransferase Subunits Alpha/Beta (GNPTAB), 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
If you are ready to order, navigate to Shopping Cart and get ready to checkout.
