LARGE xylosyl- and glucuronyltransferase 1
अंतिम अद्यतन 12 अप्रैल 2023
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The protein produced from the LARGE1 gene is found in a specialized structure within cells called the Golgi apparatus, where newly produced proteins are modified. The LARGE1 protein is involved in a process called glycosylation. Through this chemical process, sugar molecules are added to certain proteins. In particular, the LARGE1 protein adds chains of sugar molecules composed of xylose and glucuronic acid to a protein called alpha (α)-dystroglycan. Glycosylation is critical for the normal function of α-dystroglycan.
Normal function
The protein produced from the LARGE1 gene is found in a specialized structure within cells called the Golgi apparatus, where newly produced proteins are modified. The LARGE1 protein is involved in a process called glycosylation. Through this chemical process, sugar molecules are added to certain proteins. In particular, the LARGE1 protein adds chains of sugar molecules composed of xylose and glucuronic acid to a protein called alpha (α)-dystroglycan. Glycosylation is critical for the normal function of α-dystroglycan.
The α-dystroglycan protein helps anchor the structural framework inside each cell (cytoskeleton) to the lattice of proteins and other molecules outside the cell (extracellular matrix). In skeletal muscles, glycosylated α-dystroglycan helps stabilize and protect muscle fibers. In the brain, it helps direct the movement (migration) of nerve cells (neurons) during early development.
Conditions referring to this gene or chromosome
Other names
acetylglucosaminyltransferase-like 1A
acetylglucosaminyltransferase-like protein
glycosyltransferase-like protein LARGE1
KIAA0609
LARGE
LARGE_HUMAN
like-acetylglucosaminyltransferase
like-glycosyltransferase
MDC1D
MDDGA6
MDDGB6
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अधिक पठन और संदर्भ
- LARGE xylosyl- and glucuronyltransferase 1; MedlinePlus, National Library of Medicine.
- Inamori K, Willer T, Hara Y, Venzke D, Anderson ME, Clarke NF, Guicheney P, Bonnemann CG, Moore SA, Campbell KP. Endogenous glucuronyltransferase activity of LARGE or LARGE2 required for functional modification of alpha-dystroglycan in cells and tissues. J Biol Chem. 2014 Oct 10;289(41):28138-48. doi: 10.1074/jbc.M114.597831. Epub 2014 Aug 19.
- Inamori K, Yoshida-Moriguchi T, Hara Y, Anderson ME, Yu L, Campbell KP. Dystroglycan function requires xylosyl- and glucuronyltransferase activities of LARGE. Science. 2012 Jan 6;335(6064):93-6. doi: 10.1126/science.1214115.
- Longman C, Brockington M, Torelli S, Jimenez-Mallebrera C, Kennedy C, Khalil N, Feng L, Saran RK, Voit T, Merlini L, Sewry CA, Brown SC, Muntoni F. 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 Nov 1;12(21):2853-61. doi: 10.1093/hmg/ddg307. Epub 2003 Sep 9.
- van Reeuwijk J, Grewal PK, Salih MA, Beltran-Valero de Bernabe D, McLaughlan JM, Michielse CB, Herrmann R, Hewitt JE, Steinbrecher A, Seidahmed MZ, Shaheed MM, Abomelha A, Brunner HG, van Bokhoven H, Voit T. Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome. Hum Genet. 2007 Jul;121(6):685-90. doi: 10.1007/s00439-007-0362-y. Epub 2007 Apr 14.
- Vuillaumier-Barrot S, Bouchet-Seraphin C, Chelbi M, Eude-Caye A, Charluteau E, Besson C, Quentin S, Devisme L, Le Bizec C, Landrieu P, Goldenberg A, Maincent K, Loget P, Boute O, Gilbert-Dussardier B, Encha-Razavi F, Gonzales M, Grandchamp B, Seta N. Intragenic rearrangements in LARGE and POMGNT1 genes in severe dystroglycanopathies. Neuromuscul Disord. 2011 Nov;21(11):782-90. doi: 10.1016/j.nmd.2011.06.001. Epub 2011 Jul 2.
- Yoshida-Moriguchi T, Campbell KP. Matriglycan: a novel polysaccharide that links dystroglycan to the basement membrane. Glycobiology. 2015 Jul;25(7):702-13. doi: 10.1093/glycob/cwv021. Epub 2015 Apr 16.
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