RFNG
Description
The RFNG (RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase) is a protein-coding gene located on chromosome 17.
RFNG, also known as radical fringe, is a protein involved in the development of embryonic limb buds. It is a member of the fringe gene family, which includes manic fringe and lunatic fringe. RFNG plays a crucial role in dorsoventral patterning of the limb and is implicated in the formation of the apical ectodermal ridge (AER), which is essential for the distal patterning of the limb. Studies in chicken models show that RFNG is expressed in both the dorsal ectoderm and the AER, suggesting that the AER forms from cells already expressing RFNG. However, further evidence is needed to confirm this. Grafting experiments indicate that formation of the AER is influenced by signals from the limb bud mesoderm, with RFNG acting as a permissive signal to define the boundary for AER formation. Knockout experiments in chicken models suggest that RFNG is vital for wing development. In contrast, knockout experiments in mice have shown that the absence of RFNG does not lead to any observable phenotypic differences.
This glycosyltransferase initiates the elongation of O-linked fucose residues attached to EGF-like repeats found in the extracellular domain of Notch molecules. By modifying O-fucose residues at specific EGF-like domains, RFNG modulates NOTCH1 activity, leading to increased activation of NOTCH1 by DLL1 and JAG1. RFNG may also play a role in limb formation and neurogenesis.
RFNG is also known as -.
Associated Diseases
- esophageal cancer
- Robin sequence-oligodactyly syndrome
- syndactyly type 4
- mesomelic dwarfism-cleft palate-camptodactyly syndrome
- Patterson-Stevenson-Fontaine syndrome
- brachydactyly-syndactyly syndrome
- syndactyly type 5
- syndactyly type 1
- mesoaxial synostotic syndactyly with phalangeal reduction
- nephrosis-deafness-urinary tract-digital malformations syndrome
- syndactyly type 3
- Pierre Robin syndrome-faciodigital anomaly syndrome
- brachydactyly type A2
- split-foot malformation-mesoaxial polydactyly syndrome
- ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome
- synpolydactyly type 1
