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Protein structure
LARGE1
LARGE xylosyl- and glucuronyltransferase 1KIAA0609, LARGE
This gene encodes a member of the N-acetylglucosaminyltransferase gene family. It encodes a glycosyltransferase which participates in glycosylation of alpha-dystroglycan, and may carry out the synthesis of glycoprotein and glycosphingolipid sugar chains. It may also be involved in the addition of a repeated disaccharide unit. The protein encoded by this gene is the glycotransferase that adds the final xylose and glucuronic acid to alpha-dystroglycan and thereby allows alpha-dystroglycan to bind ligands including laminin 211 and neurexin. Mutations in this gene cause several forms of congenital muscular dystrophy characterized by cognitive disability and abnormal glycosylation of alpha-dystroglycan. Alternative splicing of this gene results in multiple transcript variants that encode the same protein. [provided by RefSeq, May 2018]
Top validated antibodies |
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| Novus Biologicals |  NBP1-49865 |
1 references | Polyclonal |
WB
EL
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| antibodies-online | ABIN498027 |
1 references | Polyclonal |
WB
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| GeneTex | GTX117180 |
Polyclonal |
WB
IHC
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| Invitrogen Antibodies | MA5-28611 |
Monoclonal |
WB
FC
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| Proteintech Group | 24307-1-AP |
Polyclonal |
WB
EL
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