EC Number   |
General Information |
Reference |
|---|
   2.4.1.222 | evolution |
the enzyme belongs to the family of glycosyltransferases. Binding to UDP and presence of DxD motif are two significant characteristics of glycosyltransferases |
736661 |
| 2.4.1.222 | malfunction |
a Japanese Spondylocostal dysostosis case with multiple severe vertebral anomalies from cervical to sacral spine is a compound heterozygote for c.372delG (p.K124Nfs*) and c.601G>A (p.D201N) variants of the enzyme (LFNG), which encodes a glycosyltransferase (O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase). The missense variant is in the DxD motif, an active-site motif of the glycosyltransferase, and its loss of the enzyme function is confirmed by an in vitro enzyme assay |
759580 |
| 2.4.1.222 | malfunction |
deletion of gene lfng impairs myofibroblast differentiation and alveogenesis, alveolar developmental defect in Lfng mutants with altered elastogenesis and collagen deposition in Lfng mutant lungs, phenotype, overview |
721256 |
| 2.4.1.222 | malfunction |
deletion of Lfng in mice causes altered Notch activation in the prostate, associated with elevated accumulation of Notch1, Notch2, and Notch4 intracellular domains, decreased levels of the putative Notch3 intracellular fragment, as well as increased expression of Hes1, Hes5, and Hey2. Loss of Lfng results in expansion of the basal layer, increased proliferation of both luminal and basal cells, and ultimately, prostatic intraepithelial neoplasia. The Lfng-null prostate shows down-regulation of prostatic tumor suppressor gene NKX3.1 and increased androgen receptor expression. Deletion of Lfng caused dysregulation of Notch signaling in the prostate. Increased epithelial proliferation and prostatic intraepithelial neoplasia in the Lfng-null mutant gland |
736884 |
| 2.4.1.222 | malfunction |
eliminating any of three highly conserved O-fucose sites at EGF 12, 26, or 27 within mouse Notch1 alters the activity in cell-based Notch signaling assays. EGF 12 is part of the ligand-binding region of Notch, a mouse line carrying a point mutation in the O-fucosylation site of EGF 12 in endogenous Notch1 shows loss of this site which results in a mild Notch phenotype with defects in T cell development |
722090 |
| 2.4.1.222 | malfunction |
Fringe-dependent Notch signaling is disrupted in a nac and Efr double mutant, reduction of Notch signaling may account for the developmental defects associated with CDG IIc |
736212 |
| 2.4.1.222 | malfunction |
impact of Lfng deficiency on beta-selection, decreasing Lfng expression during the DN3-DP transition minimizes the potent leukemogenic potential of Notch1 signaling |
721917 |
| 2.4.1.222 | malfunction |
knockdown of LFNG in DU-145 prostate cancer cells leads to expansion of CD44+CD24- and CD49f+CD24- stem/progenitor-like cell population associated with enhanced prostatosphere-forming capacity. The Lfng-null prostate shows down-regulation of prostatic tumor suppressor gene NKX3.1 and increased androgen receptor expression |
736884 |
| 2.4.1.222 | malfunction |
Lfng depletion does not affect the balance between neuronally committed cells and selfrenewing progenitors, irrespective of the cell density of Lfng-depleted cells, and causes no obvious defects in brain development, but in vivo overexpression of Lfng shows that it strongly augments Notch signaling mediated by Delta-like 1 but not Jagged 1, phenotypes, overview |
723179 |
| 2.4.1.222 | malfunction |
Lfng modification of EGF12 in the Notch1 ligand-binding domain contributes to, but is not solely responsible for, the cell-nonautonomous inhibition of T cell development caused by transgenic Lfng expression in double-positive thymocytes. O-fucose site in the Notch1 ligand binding domain is partly responsible for the effects of Lfng overexpression |
722885 |
