LFNG Chromosome 7
LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
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What This Gene Does
This gene is a member of the glycosyltransferase 31 gene family. Members of this gene family, which also includes the MFNG (GeneID: 4242) and RFNG (GeneID: 5986) genes, encode evolutionarily conserved glycosyltransferases that act in the Notch signaling pathway to define boundaries during embryonic development. While their genomic structure is distinct from other glycosyltransferases, these proteins have a fucose-specific beta-1,3-N-acetylglucosaminyltransferase activity that leads to elongation of O-linked fucose residues on Notch, which alters Notch signaling. The protein encoded by this gene is predicted to be a single-pass type II Golgi membrane protein but it may also be secreted and proteolytically processed like the related proteins in mouse and Drosophila (PMID: 9187150). Mutations in this gene have been associated with autosomal recessive spondylocostal dysostosis 3. [provided by RefSeq, May 2018]
Gene Info
Gene Group
"Beta 3-glycosyltransferases|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
7p22.3
Ensembl
ENSG00000106003
Associated Conditions (4)
Spondylocostal dysostosis 3
autosomal recessive
Inborn genetic diseases
Spondylocostal dysostosis 2
Key Variants
RS139864844
Conflicting classifications of pathogenicity
Spondylocostal dysostosis 3, autosomal recessive, Spondylocostal dysostosis 3
Health Risk
RS147110861
Conflicting classifications of pathogenicity
Spondylocostal dysostosis 3, autosomal recessive, Inborn genetic diseases
Health Risk
RS202171160
Conflicting classifications of pathogenicity
Spondylocostal dysostosis 3, autosomal recessive, Spondylocostal dysostosis 3
Health Risk
RS376342763
Conflicting classifications of pathogenicity
Spondylocostal dysostosis 3, autosomal recessive, Spondylocostal dysostosis 3
Health Risk
RS71647813
Conflicting classifications of pathogenicity
Spondylocostal dysostosis 3, autosomal recessive, Inborn genetic diseases
Health Risk
RS758997792
Conflicting classifications of pathogenicity
Inborn genetic diseases, Spondylocostal dysostosis 3, autosomal recessive
Health Risk
RS1413169361
Likely pathogenic
Spondylocostal dysostosis 3, autosomal recessive, Spondylocostal dysostosis 3
Health Risk
RS104894024
Pathogenic
Spondylocostal dysostosis 3, autosomal recessive, Spondylocostal dysostosis 2
Health Risk
RS1211456697
Pathogenic
Spondylocostal dysostosis 3, autosomal recessive, Spondylocostal dysostosis 3
Health Risk
RS1562551396
Pathogenic
Spondylocostal dysostosis 3, autosomal recessive, Spondylocostal dysostosis 3
Health Risk
RS1779898374
Pathogenic
Spondylocostal dysostosis 3, autosomal recessive, Spondylocostal dysostosis 3
Health Risk
RS2534228779
Pathogenic
Spondylocostal dysostosis 3, autosomal recessive, Spondylocostal dysostosis 3
Health Risk
All Variants (12)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139864844 | Health Risk | Conflicting classifications of pathogenicity | Spondylocostal dysostosis 3, autosomal recessive, Spondylocostal dysostosis 3 |
| RS147110861 | Health Risk | Conflicting classifications of pathogenicity | Spondylocostal dysostosis 3, autosomal recessive, Inborn genetic diseases |
| RS202171160 | Health Risk | Conflicting classifications of pathogenicity | Spondylocostal dysostosis 3, autosomal recessive, Spondylocostal dysostosis 3 |
| RS376342763 | Health Risk | Conflicting classifications of pathogenicity | Spondylocostal dysostosis 3, autosomal recessive, Spondylocostal dysostosis 3 |
| RS71647813 | Health Risk | Conflicting classifications of pathogenicity | Spondylocostal dysostosis 3, autosomal recessive, Inborn genetic diseases |
| RS758997792 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Spondylocostal dysostosis 3, autosomal recessive |
| RS1413169361 | Health Risk | Likely pathogenic | Spondylocostal dysostosis 3, autosomal recessive, Spondylocostal dysostosis 3 |
| RS104894024 | Health Risk | Pathogenic | Spondylocostal dysostosis 3, autosomal recessive, Spondylocostal dysostosis 2 |
| RS1211456697 | Health Risk | Pathogenic | Spondylocostal dysostosis 3, autosomal recessive, Spondylocostal dysostosis 3 |
| RS1562551396 | Health Risk | Pathogenic | Spondylocostal dysostosis 3, autosomal recessive, Spondylocostal dysostosis 3 |
| RS1779898374 | Health Risk | Pathogenic | Spondylocostal dysostosis 3, autosomal recessive, Spondylocostal dysostosis 3 |
| RS2534228779 | Health Risk | Pathogenic | Spondylocostal dysostosis 3, autosomal recessive, Spondylocostal dysostosis 3 |