Xylosyltransferase 1

Alternative Names

  • XYLT1
  • XT1
  • UDP-D-Xylose:Proteoglycan Core Protein Beta-D-Xylosyltransferase 1

Associated Diseases

Desbuquois Dysplasia 2
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OMIM Number

608124

NCBI Gene ID

64131

Uniprot ID

Q86Y38

Length

369,192 bases

No. of Exons

14

No. of isoforms

1

Protein Name

Xylosyltransferase 1

Molecular Mass

107569 Da

Amino Acid Count

959

Genomic Location

chr16:17,101,768-17,470,959

Gene Map Locus
16p12.3

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_022166.3:c.2169dupUnited Arab EmiratesNC_000016.10:g.17127725dupLikely PathogenicDesbuquois Dysplasia 2NG_015843.1:g.348162dup; NM_022166.3:c.2169dup; NP_071449.1:p.Val724SerfsTer10
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