XYLT2 xylosyltransferase 2

Gene ID: 64132, updated on 27-Nov-2024
Gene type: protein coding
Also known as: SOS; XT2; XT-II; PXYLT2; xylT-II

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. [provided by RefSeq, Dec 2013]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Autosomal recessive inherited pseudoxanthoma elasticum MedGen: C1275116OMIM: 264800GeneReviews: Pseudoxanthoma Elasticum	See labs
Spondylo-ocular syndrome MedGen: C4225412OMIM: 605822GeneReviews: Not available	See labs

Genomic context

Location:: 17q21.33

Sequence:: Chromosome: 17; NC_000017.11 (50346126..50361185)

Total number of exons:: 13

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for XYLT2 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants
XYLT2 database

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