rs145615486

This variant is located in the XYLT1 gene.

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ClinVar annotation

Likely Benign★★★☆
3 submitters2 publications

Desbuquois dysplasia 1; not provided; not specified

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About XYLT1

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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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