EC Number   |
General Information |
Reference |
|---|
    2.4.2.26 | malfunction |
LARGE gene silencing in Hep-G2 and HEK-EBNA cells does not affect SERPINC1 mRNA levels but significantly reduces the secretion of antithrombin with moderate intracellular retention |
737112 |
| 2.4.2.26 | physiological function |
in Xylt2-/- mice total XylT activity is decreased ca. 99% as compared to Xylt2+/+ mice |
703904 |
| 2.4.2.26 | physiological function |
LARGE is a modifier of plasma antithrombin |
737112 |
| 2.4.2.26 | physiological function |
the enzyme modifies Eyes shut to promote rhabdomere separation in Drosophila |
737062 |
| 2.4.2.26 | physiological function |
the role of XT-I in osteoarthritis disease is examined. XT-I regulates glycosaminoglycan synthesis in human cartilage during early onset and late stage of osteoarthritis disease. Expression of XT-I gene is regulated by IL-1beta and by TGF-beta1. Forced expression of this enzyme by gene transfer in late stage osteoarthritis cartilage enhances glycosaminoglycan synthesis and stimulates cartilage repair |
723555 |
| 2.4.2.26 | physiological function |
the single nucleotide polymorphism c.343G-T in XYLT1 exon 1 correlates with a significantly decreased glycosaminoglycan content in the serum of healthy blood donors. The two XYLT2 variations (c.166G-A in exon 2 and c.1253C-T in exon 6) reveal no changes in the serum glycosaminoglycan amount |
703247 |
| 2.4.2.26 | physiological function |
XylT-II fragments bind with low affinity to heparin. Prolonging of XylT-II fragments does not account for a cooperative effect of multiple heparin-binding motifs and in turn for a stronger heparin-binding. Two high polarity surface regions in the stem region with the sequence [-K-G-R-Q-R-K-P-R-P-] and [-G-R-R-H-G-R-W-], both representing Cardin-Weintraub motifs |
702051 |
