Product Overview
Blocking/Immunizing peptide for anti-LARGE (N-terminus) antibody
Target
LARGE (N-terminus)
Tag/Conjugate
Unconjugated
Application Notes
For in vitro research use only. Not intended for any diagnostic or therapeutic purpose. Not for human or animal consumption.
Format
Lyophilized powder
Storage
Shipped at ambient temperature, store at -20°C.
Antigen Description
This gene, which is one of the largest in the human genome, 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. Mutations in this gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan. Alternative splicing of this gene results in two transcript variants that encode the same protein. [provided by RefSeq, Jul 2008]
Function
acetylglucosaminyltransferase activity; transferase activity, transferring glycosyl groups;
Synonyms
LARGE; like-glycosyltransferase; MDC1D; MDDGA6; MDDGB6; glycosyltransferase-like protein LARGE1; like-acetylglucosaminyltransferase; acetylglucosaminyltransferase-like 1A; acetylglucosaminyltransferase-like protein;
Citations
Publication ()
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