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JCGG-STR033547 JCGG-STR033548
JCGG-STR033548 JCGG-STR033549
JCGG-STR031571 JCGG-STR033547
GYLTL1B encodes glycosyltransferase-like protein LARGE2 gene, which is a paralog of LARGE gene and encodes a glycosyltransferase having β1-3-glucuronosyltransferase activity andα1,3- xylosyltransferase activity. This gene is involved in the synthesis of α−dystroglycan (phosphorylated O-mannose :N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), synthesizing (Xyla1-3GlcAb1-3)n repeats of disaccharide structure. The O-mannose on this α−dystroglycan has an important role in laminin binding, which is essential for muscle functions.
congenital muscular dystrophy dystroglycanopathy phosphorylated O-mannose α1,3-xylosyltransferase α−dystroglycan β1-3-glucuronosyltransferase

Xylosyltransferase

Glucuronyltransferase

GGDB SymbolGYLTL1B
Alias LARGE2, PP5656, FLJ35207    details
Designationglycosyltransferase-like 1B
OrganismHomo sapiens
GeneID 120071
HGNC 16522
mRNA NM_152312       (CDS)
Protein NP_689525       (CDS)
map11p11.2
EC#
CAZy
OMIM 609709   
This page does not indicate all of the enzymatic reaction, and expression of "GYLTL1B".