Entity Details

Primary name LFNG
Entity type gene
Source Source Link

Details

PrimaryID3955
RefseqGeneNG_008109
SymbolLFNG
NameLFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
Chromosome7
Location7p22.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-05-01
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsLFNG_HUMAN

GO terms

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GOName
GO:0000139 Golgi membrane
GO:0001756 somitogenesis
GO:0002315 marginal zone B cell differentiation
GO:0005576 extracellular region
GO:0008375 acetylglucosaminyltransferase activity
GO:0008593 regulation of Notch signaling pathway
GO:0009887 animal organ morphogenesis
GO:0014807 regulation of somitogenesis
GO:0030173 integral component of Golgi membrane
GO:0030217 T cell differentiation
GO:0033829 O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity
GO:0046872 metal ion binding
GO:1902367 negative regulation of Notch signaling pathway involved in somitogenesis
GO:1903561 extracellular vesicle

Diseases

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Disease IDSourceNameDescription
609813 OMIMSpondylocostal dysostosis 3, autosomal recessive (SCDO3)A condition of variable severity associated with vertebral and rib segmentation defects. The main skeletal malformations include fusion of vertebrae, hemivertebrae, fusion of certain ribs, and other rib malformations. Deformity of the chest and spine (severe scoliosis, kyphoscoliosis and lordosis) is a natural consequence of the malformation and leads to a dwarf-like appearance. As the thorax is small, infants frequently have respiratory insufficiency and repeated respiratory infections resulting in life-threatening complications in the first year of life. The disease is caused by variants affecting the gene represented in this entry.

Interactions

6 interactions