MFNG
Description
The MFNG (MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase) is a protein-coding gene located on chromosome 22.
The MFNG gene encodes a protein called beta-1,3-N-acetylglucosaminyltransferase manic fringe. This enzyme belongs to the fringe gene family, which includes radical fringe (RFNG) and lunatic fringe (LFNG). These proteins play a crucial role in the Notch receptor pathway, establishing boundaries during embryonic development. While their genetic structure is distinct from other glycosyltransferases, fringe proteins possess a specific activity: they add N-acetylglucosamine to fucose residues on the Notch receptor. This modification, known as O-fucosylation, changes how Notch signals, influencing developmental processes.
MFNG, also known as O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase, is a glycosyltransferase that modifies O-linked fucose residues on the EGF-like repeats within the extracellular domain of Notch receptors. This modification impacts Notch signaling by inhibiting activation by the JAG1 ligand and promoting activation by the DLL1 ligand. MFNG increases Notch's affinity for DLL1, ultimately modulating Notch1 activity.
MFNG is also known as -.
Associated Diseases
- esophageal cancer
- isolated agammaglobulinemia
- common variable immunodeficiency
- severe combined immunodeficiency due to CTPS1 deficiency
- immunodeficiency 18
- immunodeficiency 105
- severe combined immunodeficiency due to CARD11 deficiency
- hyper-IgE recurrent infection syndrome 5, autosomal recessive
- agammaglobulinemia 7, autosomal recessive
- hyper-IgM syndrome type 3
- agammaglobulinemia 10, autosomal dominant
- combined immunodeficiency with skin granulomas
- combined immunodeficiency due to moesin deficiency
- immunodeficiency 62
- BENTA disease
- neutropenia, severe congenital, 1, autosomal dominant
