Literature associating RFNG and Dowling-Degos disease
RFNG [ENSP00000307971]
Beta-1,3-N-acetylglucosaminyltransferase radical fringe; 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 enhancement of NOTCH1 activation by DLL1 and JAG1. May be involved in limb formation and in neurogenesis.
Synonyms: RFNG, F5H3H7, J3QLN0, Q9Y644, F5H3H7p ...