LFNG Antibody – Rabbit Polyclonal

This gene is a member of the glycosyltransferase 31 gene family. Members of this gene family, which also includes the MFNG (GeneID: 4242) and RFNG (GeneID: 5986) genes, 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, these 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. The protein encoded by this gene 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. [provided by RefSeq, May 2018]

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: Membrane protein, integral; Transferase; Cell cycle regulation; EC 2.4.1.222

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; ovarian follicle development; regulation of Notch signaling pathway; metabolic process; female meiosis; regulation of somitogenesis; positive regulation of Notch signaling pathway

Disease: Spondylocostal Dysostosis 3, Autosomal Recessive