Human beta 1, 3 N acetylglucosaminyltransferase lunatic fringe (LFNG) ELISA Kit | LFNG elisa kit
Human beta 1, 3 N acetylglucosaminyltransferase lunatic fringe (LFNG) ELISA Kit
NCBI and Uniprot Product Information
NCBI Description
This gene is a member of the fringe gene family which also includes radical and manic fringe genes. They all encode evolutionarily conserved glycosyltransferases that act in the Notch signaling pathway to define boundaries during embryonic development. While their genomic structure is distinct from other glycosyltransferases, fringe proteins have a fucose-specific beta-1,3-N-acetylglucosaminyltransferase activity that leads to elongation of O-linked fucose residues on Notch, which alters Notch signaling. This gene product is predicted to be a single-pass type II Golgi membrane protein but it may also be secreted and proteolytically processed like the related proteins in mouse and Drosophila (PMID: 9187150). Mutations in this gene have been associated with autosomal recessive spondylocostal dysostosis 3. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
Uniprot Description
LFNG: Glycosyltransferase that initiates the elongation of O- linked fucose residues attached to EGF-like repeats in the extracellular domain of Notch molecules. Decreases the binding of JAGGED1 to NOTCH2 but not that of DELTA1. Essential mediator of somite segmentation and patterning. Defects in LFNG are the cause of spondylocostal dysostosis type 3 (SCDO3). An autosomal recessive condition of variable severity associated with vertebral and rib segmentation defects. The main skeletal malformations include fusion of vertebrae, hemivertebrae, fusion of certain ribs, and other rib malformations. Deformity of the chest and spine (severe scoliosis, kyphoscoliosis and lordosis) is a natural consequence of the malformation and leads to a dwarf-like appearance. As the thorax is small, infants frequently have respiratory insufficiency and repeated respiratory infections resulting in life-threatening complications in the first year of life. Belongs to the glycosyltransferase 31 family. 3 isoforms of the human protein are produced by alternative splicing.
Protein type: EC 2.4.1.222; Cell cycle regulation; Transferase; Membrane protein, integral
Chromosomal Location of Human Ortholog: 7p22.2
Cellular Component: extracellular region; integral to Golgi membrane; vesicle
Molecular Function: metal ion binding; O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity
Biological Process: compartment specification; organ morphogenesis; somitogenesis; Notch signaling pathway; positive regulation of protein binding; regulation of Notch signaling pathway; ovarian follicle development; metabolic process; female meiosis; regulation of somitogenesis; positive regulation of Notch signaling pathway
Disease: Spondylocostal Dysostosis 3, Autosomal Recessive
Research Articles on LFNG
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Product Notes
The Human LFNG lfng (Catalog #AAA7220538) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA7220538 ELISA Kit recognizes Human LFNG. It is sometimes possible for the material contained within the vial of "beta 1, 3 N acetylglucosaminyltransferase lunatic fringe (LFNG), 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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