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Like Glycosyltransferase (LARGE)

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Glycosyltransferase-like protein LARGE1; Acetylglucosaminyltransferase-like 1A

Like Glycosyltransferase (LARGE)
CCC H936
HGNC 6511
MGI 1342270
RGD 1308895
UniProt O95461
LARGE, 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.LARGE protein contains an N-terminal transmembrane domain, a coiled-coil domain, and 2 catalytic domains.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPH936Hu01 Recombinant Like Glycosyltransferase (LARGE) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAH936Hu01 Polyclonal Antibody to Like Glycosyltransferase (LARGE) WB; IHC; ICC; IP.
Assay Kits n/a CLIA Kit for Like Glycosyltransferase (LARGE) CLIA Kit Customized Service Offer
n/a ELISA Kit for Like Glycosyltransferase (LARGE) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Like Glycosyltransferase (LARGE) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Like Glycosyltransferase (LARGE) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Like Glycosyltransferase (LARGE) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Like Glycosyltransferase (LARGE) CLIA Kit Customized Service Offer
n/a ELISA Kit for Like Glycosyltransferase (LARGE) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Like Glycosyltransferase (LARGE) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Like Glycosyltransferase (LARGE) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Like Glycosyltransferase (LARGE) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Like Glycosyltransferase (LARGE) CLIA Kit Customized Service Offer
n/a ELISA Kit for Like Glycosyltransferase (LARGE) ELISA Kit Customized Service Offer
  1. "The human LARGE gene from 22q12.3-q13.1 is a new, distinct member of the glycosyltransferase gene family."Proc. Natl. Acad. Sci. U.S.A. 96:598-603(1999) [PubMed] [Europe PMC] [Abstract]
  2. "Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro."DNA Res. 5:31-39(1998) [PubMed] [Europe PMC] [Abstract]
  3. "A genome annotation-driven approach to cloning the human ORFeome."Genome Biol. 5:R84.1-R84.11(2004) [PubMed] [Europe PMC] [Abstract]
  4. "The DNA sequence of human chromosome 22." Nature 402:489-495(1999) [PubMed] [Europe PMC] [Abstract]
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  6. "LARGE2 facilitates the maturation of alpha-dystroglycan more effectively than LARGE."Biochem. Biophys. Res. Commun. 329:1162-1171(2005) [PubMed] [Europe PMC] [Abstract]
  7. "Characterization of the LARGE family of putative glycosyltransferases associated with dystroglycanopathies."Glycobiology 15:912-923(2005) [PubMed] [Europe PMC] [Abstract]
  8. "Localization and functional analysis of the LARGE family of glycosyltransferases: significance for muscular dystrophy."Hum. Mol. Genet. 14:657-665(2005) [PubMed] [Europe PMC] [Abstract]
  9. "Tumor suppressor function of laminin-binding alpha-dystroglycan requires a distinct beta3-N-acetylglucosaminyltransferase."Proc. Natl. Acad. Sci. U.S.A. 106:12109-12114(2009) [PubMed] [Europe PMC] [Abstract]
  10. "Like-acetylglucosaminyltransferase (LARGE)-dependent modification of dystroglycan at Thr-317/319 is required for laminin binding and arenavirus infection."Proc. Natl. Acad. Sci. U.S.A. 108:17426-17431(2011) [PubMed] [Europe PMC] [Abstract]
  11. "Dystroglycan function requires xylosyl- and glucuronyltransferase activities of LARGE."Science 335:93-96(2012) [PubMed] [Europe PMC] [Abstract]
  12. "The glucuronyltransferase B4GAT1 is required for initiation of LARGE-mediated alpha-dystroglycan functional glycosylation."Elife 3:0-0(2014) [PubMed] [Europe PMC] [Abstract]
  13. "B4GAT1 is the priming enzyme for the LARGE-dependent functional glycosylation of alpha-dystroglycan."Elife 3:0-0(2014) [PubMed] [Europe PMC] [Abstract]
  14. "Endogenous glucuronyltransferase activity of LARGE or LARGE2 required for functional modification of alpha-dystroglycan in cells and tissues."J. Biol. Chem. 289:28138-28148(2014) [PubMed] [Europe PMC] [Abstract]
  15. "Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan."Hum. Mol. Genet. 12:2853-2861(2003) [PubMed] [Europe PMC] [Abstract]
  16. "Brain involvement in muscular dystrophies with defective dystroglycan glycosylation." Ann. Neurol. 64:573-582(2008) [PubMed] [Europe PMC] [Abstract]
  17. "Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study." Neurology 72:1802-1809(2009) [PubMed] [Europe PMC] [Abstract]