Entrez gene ID | | 64131 |
Official gene symbol | | XYLT1 |
Full name | | xylosyltransferase I |
Aliases | | ,PXYLT1,XT-I,XT1,XTI,XYLTI, |
Gene summary | | 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. |
Location | | Chromosome: 16 Locus: 16p12.3 |
Gene position | | 17564738 - 17196181 Map Viewer |
Gene orientation | | minus |
Gene size | | 368558 bp |
Gene sequence |
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OMIM ID | | 608124 |