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mutations in the XYLT2 gene result in a variable phenotype dominated by spinal osteoporosis, cataract, and hearing loss.
XYLT2 mutations cause a relatively distinct phenotype, the so-called spondyloocular syndrome.
Homozygosity for frameshift mutations in XYLT2 result in a spondylo-ocular syndrome with bone fragility, cataracts, and hearing defects.
Demonstrate that XT-II is the predominant isoenzyme responsible for XT activity in serum. The proof was performed using UDP-xylose (显示 XXYLT1 抗体) as the xylose donor, as well as the compound UDP-4-azido-4-deoxyxylose, which is a selective xylose donor for XT-I (显示 XYLT1 抗体).
Seven XYLT2 promoter single nucleotide variants (SNVs) were identified and genotyped.
The study identified and characterized for the first time the XYLT2 gene promoter region and transcription factors involved in its regulation.
recombinant expression and cloning of active full-length xylosyltransferase I (XT-I (显示 XYLT1 抗体)) and characterization of subcellular localization of XT-I (显示 XYLT1 抗体) and XT-II
demonstrate that a soluble form of human XT-II expressed in the xylosyltransferase-deficient pgsA-745 (S745) Chinese hamster ovary cell line is indeed capable of catalyzing the transfer of xylose to a variety of peptide substrates
Our data show for the first time that XT-I (显示 XYLT1 抗体) and XT-II are xylosyltransferases with similar but not identical properties, pointing to their potential role in modulating the cellular proteoglycan (显示 Vcan 抗体) pool.
Our data show that a XYLT2 haplotype is associated with nephropathy in type 1 diabetic patients
alterations in proteoglycans (PGs)concentrations can occur due to loss of XylT2, and that reduced PGs can induce cyst development
the data from Xylt2 knock-out mice and mice with liver neoplasia show that liver is a significant source of serum XylT2 activity.
The protein encoded by this gene is an isoform of xylosyltransferase, which belongs to a family of glycosyltransferases. This enzyme transfers xylose from UDP-xylose to specific serine residues of the core protein and initiates the biosynthesis of glycosaminoglycan chains in proteoglycans including chondroitin sulfate, heparan sulfate, heparin and dermatan sulfate. The enzyme activity, which is increased in scleroderma patients, is a diagnostic marker for the determination of sclerotic activity in systemic sclerosis.
, xylosyltransferase 2
, peptide O-xylosyltransferase 2
, proteoglycan core protein beta-D-xylosyltransferase
, xylosyltransferase 2-like
, UDP-D-xylose:core protein beta-D-xylosyltransferase
, UDP-D-xylose:proteoglycan core protein beta-D-xylosyltransferase
, peptide O-xylosyltransferase 1
, protein xylosyltransferase 2