Gene Symbol | XYLT1 |
Entrez Gene ID | 64131 |
Full Name | xylosyltransferase 1 |
Synonyms | DBQD2,PXYLT1,XT-I,XT1,XTI,XYLTI,xylT-I |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | {Pseudoxanthoma elasticum, modifier of severity of}, 264800 (3); Desbuquois dysplasia 2, 615777 (3) |