DISEASES

Disease-gene associations mined from literature

Literature associating LFNG and spondylocostal dysostosis

LFNG [ENSP00000222725]

LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase; Glycosyltransferase that initiates the elongation of O- linked fucose residues attached to EGF-like repeats in the extracellular domain of Notch molecules. Modulates NOTCH1 activity by modifying O-fucose residues at specific EGF-like domains resulting in inhibition of NOTCH1 activation by JAG1 and enhancement of NOTCH1 activation by DLL1 via an increase in its binding to DLL1 (By similarity). Decreases the binding of JAG1 to NOTCH2 but not that of DLL1. Essential mediator of somite segmentation and patterning (By similarity); Beta 3-glycosyltransferases

Synonyms:  LFNG,  LFNG-001,  LFNG-002,  LFNG-003,  LFNG-004 ...

Linkouts:  STRING  Pharos  UniProt  OMIM