LARGE
{{short description|Human enzyme present in the golgi body}}
{{Infobox_gene}}
Glycosyltransferase-like protein LARGE1 is an enzyme that in humans is encoded by the LARGE gene.{{cite journal |vauthors=Peyrard M, Seroussi E, Sandberg-Nordqvist AC, Xie YG, Han FY, Fransson I, Collins J, Dunham I, Kost-Alimova M, Imreh S, Dumanski JP | title = The human LARGE gene from 22q12.3-q13.1 is a new, distinct member of the glycosyltransferase gene family | journal = Proc Natl Acad Sci U S A | volume = 96 | issue = 2 | pages = 598–603 |date=Mar 1999 | pmid = 9892679 | pmc = 15182 | doi =10.1073/pnas.96.2.598 | bibcode = 1999PNAS...96..598P | doi-access = free }}{{cite journal |vauthors=Dunham I, Shimizu N, Roe BA, Chissoe S, Hunt AR, Collins JE, Bruskiewich R, Beare DM, Clamp M, Smink LJ, Ainscough R, Almeida JP, Babbage A, Bagguley C, Bailey J, Barlow K, Bates KN, Beasley O, Bird CP, Blakey S, Bridgeman AM, Buck D, Burgess J, Burrill WD, O'Brien KP | title = The DNA sequence of human chromosome 22 | journal = Nature | volume = 402 | issue = 6761 | pages = 489–95 |date=Dec 1999 | pmid = 10591208 | doi = 10.1038/990031 | bibcode = 1999Natur.402..489D |display-authors=etal| doi-access = free }}{{cite journal |vauthors=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 | title = 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 | journal = Hum Mol Genet | volume = 12 | issue = 21 | pages = 2853–61 |date=Oct 2003 | pmid = 12966029 | doi = 10.1093/hmg/ddg307 | doi-access = free }}{{cite web | title = Entrez Gene: LARGE like-glycosyltransferase| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=9215}}
Function
This gene, which is one of the largest in the human genome, encodes a member of the N-acetylglucosaminyltransferase gene family. The exact function of LARGE, a golgi protein, remains uncertain. 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 may also play a role in tumor-specific genomic rearrangements. Mutations in this gene may be involved in the development and progression of meningioma through modification of ganglioside composition and other glycosylated molecules in tumor cells.
References
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Further reading
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- {{cite journal |vauthors=Nagase T, Ishikawa K, Miyajima N, etal |title=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. |journal=DNA Res. |volume=5 |issue= 1 |pages= 31–9 |year= 1998 |pmid= 9628581 |doi=10.1093/dnares/5.1.31 |doi-access=free }}
- {{cite journal |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |bibcode=2002PNAS...9916899M |doi-access=free }}
- {{cite journal |vauthors=Kanagawa M, Saito F, Kunz S, etal |title=Molecular recognition by LARGE is essential for expression of functional dystroglycan. |journal=Cell |volume=117 |issue= 7 |pages= 953–64 |year= 2004 |pmid= 15210115 |doi= 10.1016/j.cell.2004.06.003 |doi-access= free }}
- {{cite journal |vauthors=Collins JE, Wright CL, Edwards CA, etal |title=A genome annotation-driven approach to cloning the human ORFeome. |journal=Genome Biol. |volume=5 |issue= 10 |pages= R84 |year= 2005 |pmid= 15461802 |doi= 10.1186/gb-2004-5-10-r84 | pmc=545604 |doi-access=free }}
- {{cite journal |vauthors=Gerhard DS, Wagner L, Feingold EA, etal |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 }}
- {{cite journal |vauthors=Brockington M, Torelli S, Prandini P, etal |title=Localization and functional analysis of the LARGE family of glycosyltransferases: significance for muscular dystrophy. |journal=Hum. Mol. Genet. |volume=14 |issue= 5 |pages= 657–65 |year= 2005 |pmid= 15661757 |doi= 10.1093/hmg/ddi062 }}
- {{cite journal |vauthors=Fujimura K, Sawaki H, Sakai T, etal |title=LARGE2 facilitates the maturation of alpha-dystroglycan more effectively than LARGE. |journal=Biochem. Biophys. Res. Commun. |volume=329 |issue= 3 |pages= 1162–71 |year= 2005 |pmid= 15752776 |doi= 10.1016/j.bbrc.2005.02.082 }}
- {{cite journal |vauthors=Grewal PK, McLaughlan JM, Moore CJ, etal |title=Characterization of the LARGE family of putative glycosyltransferases associated with dystroglycanopathies. |journal=Glycobiology |volume=15 |issue= 10 |pages= 912–23 |year= 2006 |pmid= 15958417 |doi= 10.1093/glycob/cwi094 |doi-access= free }}
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External links
- [https://www.ncbi.nlm.nih.gov/books/NBK1291/ GeneReviews/NCBI/NIH/UW entry on Congenital Muscular Dystrophy Overview]
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