AlphaFold predicted structure
LFNG · Q8NES3
Mean pLDDT
82.2/ 100
Confident
379 residues
Confidence breakdown
- Very high(≥ 90)65%
- Confident(70–90)13%
- Low(50–70)7%
- Very low(< 50)15%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
LFNG
Chr 7p22.3LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
- Aliases:
- SCDO3
- MANE:
- ENST00000222725.10
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Congenital disorders of glycosylation
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalLikely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalSkeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalFamilial Neural Tube Defects
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomalMonogenic hearing loss
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Disease associations (Open Targets)
autosomal recessive spondylocostal dysostosis
0.76hypertensive disorder
0.49cardiovascular disorder
0.42spondylocostal dysostosis
0.37neurodegenerative disease
0.37Increased blood pressure
0.32benign prostatic hyperplasia
0.30cardiac arrest
0.28heart conduction disease
0.28essential hypertension
0.27
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Beta-1,3-N-acetylglucosaminyltransferase lunatic 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 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 (PubMed:11346656). Essential mediator of somite segmentation and patterning (By similarity)