XYLT1

Chr 16AR

xylosyltransferase 1

Also known as: DBQD2, PXYLT1, XT-I, XT1, XTI, XYLTI, xylT-I

NCBI Gene: 64131 ENSG00000103489 UniProt: Q86Y38 OMIM: 608124

This gene encodes xylosyltransferase 1, which catalyzes the first step in chondroitin sulfate and dermatan sulfate proteoglycan biosynthesis by transferring xylose to serine residues of core proteins. Biallelic mutations cause Desbuquois dysplasia 2, an autosomal recessive skeletal dysplasia, and can modify the severity of pseudoxanthoma elasticum. The gene is highly constrained against loss-of-function variants (pLI 0.92, LOEUF 0.34), reflecting its essential role in skeletal development and proteoglycan synthesis.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

This locus encodes a xylosyltransferase enzyme. The encoded protein catalyzes transfer of UDP-xylose to serine residues of an acceptor protein substrate. This transfer reaction is necessary for biosynthesis of glycosaminoglycan chains. Mutations in this gene have been associated with increased severity of pseudoxanthoma elasticum.[provided by RefSeq, Nov 2009]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

{Pseudoxanthoma elasticum, modifier of severity of}MIM #264800

Desbuquois dysplasia 2MIM #615777

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

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P/LP missense

0.34

LOEUF· LoF intol.

LOF

Mechanism· G2P

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GeneReview available — XYLT1