XYLT1, Official Symbol XYLT1provided by HGNC Official Full Name xylosyltransferase 1provided by HGNC Primary source HGNC:HGNC:15516 See related Ensembl:ENSG00000103489 MIM:608124; AllianceGenome:HGNC:15516 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as XT1; XTI; XT-I; DBQD2; XYLTI; PXYLT1; xylT-I 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.[provided by RefSeq, Nov 2009] Expression Ubiquitous expression in brain (RPKM 5.2), placenta (RPKM 4.3) and 24 other tissues See more Orthologs mouse all