LFNG
LFNG O-Fucosylpeptide 3-Beta-N-Acetylglucosaminyltransferase
Gene Information Card
| Symbol | LFNG |
|---|---|
| Full Name | LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase |
| Gene Type | protein-coding |
| Chromosomal Location | 7p22.3 |
| NCBI Gene ID | 3955 ncbi.nlm.nih.gov/gene/3955 |
| Ensembl ID | ENSG00000106031 |
| UniProt ID | Q8NEJ0 |
| OMIM ID | 602576 |
| HGNC ID | 6560 |
| Aliases | SCDO3, MGC119173, MGC119174 |
Description
The LFNG gene encodes a member of the glycosyltransferase 31 family, which adds N-acetylglucosamine to O-fucose residues on Notch receptors. This modification is essential for modulating Notch signaling during development, particularly in somitogenesis and neurogenesis. Mutations in LFNG are associated with autosomal recessive spondylocostal dysostosis type 3 and congenital scoliosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spondylocostal dysostosis 3 (SCDO3) | Loss-of-function mutations impair Notch signaling, disrupting somite segmentation. | OMIM #609813 |
| Congenital scoliosis | LFNG variants alter Notch pathway activity, leading to vertebral malformations. | PubMed studies |
| Alagille syndrome (related) | Notch pathway dysregulation; LFNG mutations may contribute to phenotypic variability. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Brain | 8.2 | Low |
| Lung | 6.7 | Low |
| Liver | 4.1 | Low |
| Kidney | 9.3 | Low |
| Testis | 15.8 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 18.4 | Embryonic kidney |
| K562 | 22.1 | Leukemia |
| HeLa | 14.7 | Cervical cancer |
| HepG2 | 11.3 | Liver cancer |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.457C>T (p.Arg153*) | Nonsense | Rare | Loss of function; truncation |
| c.1A>G (p.Met1?) | Missense | Rare | Loss of function; start codon loss |
| c.563G>A (p.Arg188Gln) | Missense | Rare | Loss of function; reduced enzyme activity |
| c.764_765del (p.Val255Glufs*2) | Frameshift | Rare | Loss of function; premature stop |
Mutation functional classification
Loss of Function (LOF)
Most LFNG mutations are loss-of-function, reducing or abolishing glycosyltransferase activity, leading to impaired Notch signaling and somitogenesis defects.
Gain of Function (GOF)
No gain-of-function mutations reported in LFNG.
Dominant Negative (DN)
No dominant-negative mutations reported; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Notch signaling pathway (KEGG: hsa04330)
• Glycosphingolipid biosynthesis - lacto and neolacto series (KEGG: hsa00601)
Protein Summary
LFNG is a 379-amino acid type II transmembrane protein localized to the Golgi apparatus. It functions as a beta-1,3-N-acetylglucosaminyltransferase that modifies O-fucose residues on epidermal growth factor-like repeats of Notch receptors. This modification is critical for proper Notch receptor activation and downstream signaling, which regulates cell fate decisions during development. Defects in LFNG lead to skeletal abnormalities such as spondylocostal dysostosis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LFNG Knockout HEK293 Cell Line | EDJ-KQ1961 | Human | 3955 | Details Get a Quote |
| LFNG Knockout A-549 Cell Line | EDJ-KQ21924 | Human | 3955 | Details Get a Quote |
| LFNG Knockout HCT 116 Cell Line | EDJ-KQ21925 | Human | 3955 | Details Get a Quote |
| LFNG Knockout HeLa Cell Line | EDJ-KQ21926 | Human | 3955 | Details Get a Quote |
