Pathway
Defective LFNG causes SCDO3
The Fringe family (CAZy family GT31) of glycosyltransferases in mammals includes LFNG (lunatic fringe; MIM:602576), MFNG (manic fringe; MIM:602577) and RFNG (radical fringe; MIM:602578). Fringe enzymes function in the Golgi apparatus where they initiate the elongation of O-linked fucose on fucosylated peptides by the addition of a beta 1,3 N-acetylglucosaminyl group (GlcNAc). Fringe enzymes elongate conserved O fucosyl residues conjugated to EGF repeats of NOTCH, modulating NOTCH activity by decreasing the affinity of NOTCH extracellular domain for JAG ligands.
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The spondylocostal dysostoses (SCDs) are a group of disorders that arise during embryonic development by a disruption of somitogenesis. The Notch signalling pathway is essential for somitogenesis, the precursors of vertebra and associated musculature. Defects in one of the Fringe enzymes, beta-1,3-N-acetylglucosaminyltransferase lunatic fringe (LFNG), can cause spondylocostal dysostosis, autosomal recessive 3 (SCDO3, MIM:609813), a condition of variable severity associated with vertebral and rib segmentation defects.
What the reference databases state
Statements
5 statements
5 statements · 1 reference database · Subject: Defective LFNG causes SCDO3 · Sources: Reactome
- LFNG participates in Defective LFNG causes SCDO3ProteinReactome R-HSA-5083630Inferred only
- NOTCH1 participates in Defective LFNG causes SCDO3ProteinReactome R-HSA-5083630Inferred only
- NOTCH2 participates in Defective LFNG causes SCDO3ProteinReactome R-HSA-5083630Inferred only
- NOTCH3 participates in Defective LFNG causes SCDO3ProteinReactome R-HSA-5083630Inferred only
- NOTCH4 participates in Defective LFNG causes SCDO3ProteinReactome R-HSA-5083630Inferred only