Gene Symbol: Large1
Description: LARGE xylosyl- and glucuronyltransferase 1
Alias: Large, glycosyltransferase-like protein LARGE1, like-glycosyltransferase
Species: rat
Products:     Large1

Top Publications

  1. Grewal P, Holzfeind P, Bittner R, Hewitt J. Mutant glycosyltransferase and altered glycosylation of alpha-dystroglycan in the myodystrophy mouse. Nat Genet. 2001;28:151-4 pubmed
    ..2, 4-7). Here we show that the gene mutated in myd encodes a glycosyltransferase, Large. The human homolog of this gene (LARGE) maps to chromosome 22q...
  2. Inamori K, Yoshida Moriguchi T, Hara Y, Anderson M, Yu L, Campbell K. Dystroglycan function requires xylosyl- and glucuronyltransferase activities of LARGE. Science. 2012;335:93-6 pubmed publisher
    Posttranslational modification of alpha-dystroglycan (?-DG) by the like-acetylglucosaminyltransferase (LARGE) is required for it to function as an extracellular matrix (ECM) receptor...
  3. Inamori K, Hara Y, Willer T, Anderson M, Zhu Z, Yoshida Moriguchi T, et al. Xylosyl- and glucuronyltransferase functions of LARGE in ?-dystroglycan modification are conserved in LARGE2. Glycobiology. 2013;23:295-302 pubmed publisher
    b>LARGE-dependent modification enables ?-dystroglycan (?-DG) to bind to its extracellular matrix ligands...
  4. Goddeeris M, Wu B, Venzke D, Yoshida Moriguchi T, Saito F, Matsumura K, et al. LARGE glycans on dystroglycan function as a tunable matrix scaffold to prevent dystrophy. Nature. 2013;503:136-40 pubmed publisher
    ..of the polysaccharide repeating unit [-3-xylose-?1,3-glucuronic acid-?1-]n by like-acetylglucosaminyltransferase (LARGE) is required for the glycoprotein dystroglycan to function as a receptor for proteins in the extracellular matrix...
  5. Willer T, Inamori K, Venzke D, Harvey C, Morgensen G, Hara Y, et al. The glucuronyltransferase B4GAT1 is required for initiation of LARGE-mediated α-dystroglycan functional glycosylation. elife. 2014;3: pubmed publisher
    ..acid β1,4-xylose disaccharide synthesized by B4GAT1 acts as an acceptor primer that can be elongated by LARGE with the ligand-binding heteropolysaccharide...
  6. Ashikov A, Buettner F, Tiemann B, Gerardy Schahn R, Bakker H. LARGE2 generates the same xylose- and glucuronic acid-containing glycan structures as LARGE. Glycobiology. 2013;23:303-9 pubmed publisher
    b>LARGE (like-glycosyltransferase) and LARGE2 (glycosyltransferase-like 1B (GYLTL1B)) are homologous Golgi glycosyltransferases possessing two catalytic domains with homology to members of glycosyltransferase families GT8 and GT49...
  7. Praissman J, Live D, Wang S, Ramiah A, Chinoy Z, Boons G, et al. B4GAT1 is the priming enzyme for the LARGE-dependent functional glycosylation of α-dystroglycan. elife. 2014;3: pubmed publisher
    ..The dual-activity LARGE enzyme is capable of extending products of B4GAT1 and we provide experimental evidence that B4GAT1 is the priming ..
  8. Holzfeind P, Grewal P, Reitsamer H, Kechvar J, Lassmann H, Hoeger H, et al. Skeletal, cardiac and tongue muscle pathology, defective retinal transmission, and neuronal migration defects in the Large(myd) mouse defines a natural model for glycosylation-deficient muscle - eye - brain disorders. Hum Mol Genet. 2002;11:2673-87 pubmed
    We have recently shown that a deletion in the Large gene, encoding a putative glycosyltransferase, is the molecular defect underlying the myodystrophy (previously myd; now Large(myd)) mouse...
  9. Longman C, Brockington M, Torelli S, Jimenez Mallebrera C, Kennedy C, Khalil N, et al. 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. 2003;12:2853-61 pubmed
    ..Another putative glycosyltransferase, Large, is mutated in the myodystrophy mouse...

More Information


  1. Inamori K, Willer T, Hara Y, Venzke D, Anderson M, Clarke N, et al. Endogenous glucuronyltransferase activity of LARGE or LARGE2 required for functional modification of ?-dystroglycan in cells and tissues. J Biol Chem. 2014;289:28138-48 pubmed publisher
    Mutations in the LARGE gene have been identified in congenital muscular dystrophy (CMD) patients with brain abnormalities...