Gene: XYLT2
Alternate names for this Gene: PXYLT2|SOS|XT-II|XT2|xylT-II
Gene Summary: 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. Alternatively spliced transcript variants have been found for this gene.
Gene is located in Chromosome: 17
Location in Chromosome : 17q21.33
Description of this Gene: xylosyltransferase 2
Type of Gene: protein-coding
rs797044806 in
XYLT2 gene and
Dysmorphic features
PMID 26027496 2015 Homozygosity for frameshift mutations in XYLT2 result in a spondylo-ocular syndrome with bone fragility, cataracts, and hearing defects.
PMID 28884924 2017 Two novel mutations in XYLT2 cause spondyloocular syndrome.
PMID 26987875 2016 Spondyloocular Syndrome: Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum.
PMID 29136277 2018 Homozygous XYLT2 variants as a cause of spondyloocular syndrome.
rs797044806 in
XYLT2 gene and
Multiple congenital anomalies
PMID 29136277 2018 Homozygous XYLT2 variants as a cause of spondyloocular syndrome.
PMID 26987875 2016 Spondyloocular Syndrome: Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum.
PMID 26027496 2015 Homozygosity for frameshift mutations in XYLT2 result in a spondylo-ocular syndrome with bone fragility, cataracts, and hearing defects.
PMID 28884924 2017 Two novel mutations in XYLT2 cause spondyloocular syndrome.