功能： alternative products:Experimental confirmation may be lacking for some isoforms,catalytic activity:Transfers a beta-D-GlcNAc residue from UDP-D-GlcNAc to the fucose residue of a fucosylated protein acceptor.,caution:The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.,disease:Defects in LFNG are the cause of spondylocostal dysostosis autosomal recessive type 3 (SCDO3) [MIM:609813]. Autosomal recessive spondylocostal dysostosis is a rare 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.,function: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.,online information:Beta-1,3-N-acetylglucosaminyltransferase lunatic fringe,online information:GlycoGene database,PTM:A soluble form may be derived from the membrane form by proteolytic processing .,similarity:Belongs to the glycosyltransferase 31 family.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Golgi apparatus membrane ; Single-pass type II membrane protein .
功能： alternative products:Experimental confirmation may be lacking for some isoforms,catalytic activity:Transfers a beta-D-GlcNAc residue from UDP-D-GlcNAc to the fucose residue of a fucosylated protein acceptor.,caution:The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.,disease:Defects in LFNG are the cause of spondylocostal dysostosis autosomal recessive type 3 (SCDO3) [MIM:609813]. Autosomal recessive spondylocostal dysostosis is a rare 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.,function: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.,online information:Beta-1,3-N-acetylglucosaminyltransferase lunatic fringe,online information:GlycoGene database,PTM:A soluble form may be derived from the membrane form by proteolytic processing .,similarity:Belongs to the glycosyltransferase 31 family.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Golgi apparatus membrane ; Single-pass type II membrane protein .
在线咨询
湘公网安备