LFNG
Description
The LFNG (LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase) is a protein-coding gene located on chromosome 7.
LFNG, or Lunatic Fringe, is a protein encoded by the LFNG gene. It is a member of the glycosyltransferase superfamily and functions as a fucose-specific glycosyltransferase in the Golgi apparatus. LFNG adds an N-acetylglucosamine to the fucose residue of signaling receptors involved in regulating cell fate decisions during development. Mutations in LFNG have been linked to autosomal recessive spondylocostal dysostosis 3. The gene produces different isoforms through alternative splicing, but not all variants have been fully characterized. LFNG plays a critical role in embryonic development by establishing the anterior boundary of somites, structures that will eventually develop into vertebrae, ribs, and dermis. Its function relies on specific threshold ratios of retinoic acid and FGF-8, which determine the anterior and posterior boundaries of somites. Defects in LFNG are associated with spondylocostal dysostosis, a condition characterized by segmentation problems in developing vertebrae, resulting in vertebral fusion or absence, as well as rib abnormalities. Clinically, spondylocostal dysostosis manifests as a shortened neck and trunk relative to total height and mild scoliosis.
LFNG, also known as Lunatic Fringe, is a glycosyltransferase that initiates the elongation of O-linked fucose residues attached to EGF-like repeats in the extracellular domain of Notch molecules. It modulates NOTCH1 activity by modifying O-fucose residues at specific EGF-like domains, leading to inhibition of NOTCH1 activation by JAG1 and enhancement of NOTCH1 activation by DLL1. This enhancement is achieved through increased binding of DLL1 to NOTCH1. Additionally, LFNG decreases the binding of JAG1 to NOTCH2 but not that of DLL1. LFNG is an essential mediator of somite segmentation and patterning.
LFNG is also known as SCDO3.
