XYLT2

Chr 17

xylosyltransferase 2

Also known as: PXYLT2, SOS, XT-II, XT2, xylT-II

NCBI Gene: 64132 ENSG00000015532 UniProt: Q9H1B5

The protein catalyzes the first step in proteoglycan biosynthesis by transferring xylose from UDP-xylose to serine residues on core proteins, initiating the synthesis of chondroitin sulfate, heparan sulfate, and dermatan sulfate chains. Autosomal recessive mutations cause spondyloocular syndrome and act as modifiers of pseudoxanthoma elasticum severity. The pathogenic mechanism involves disrupted proteoglycan synthesis due to deficient xylosyltransferase activity.

ResearchSummary from RefSeq, OMIM, UniProt

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]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtSpondyloocular syndrome

UniProtPseudoxanthoma elasticum

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.34

LOEUF· LoF intol.

LOF

Mechanism· G2P

Some data sources returned errors (1)

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