LARGE

LARGE

Like-glycosyltransferase, also known as LARGE, is a human gene.cite web | title = Entrez Gene: LARGE like-glycosyltransferase| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=9215| accessdate = ]

PBB_Summary
section_title =
summary_text = This gene, which is one of the largest in the human genome, encodes a member of the N-acetylglucosaminyltransferase gene family. The function of this gene has not yet been established; however, it may involve 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. Alternative splicing of this gene results in two transcript variants that encode the same protein.cite web | title = Entrez Gene: LARGE like-glycosyltransferase| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=9215| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Nagase T, Ishikawa K, Miyajima N, "et al." |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=
*cite journal | author=Peyrard M, Seroussi E, Sandberg-Nordqvist AC, "et al." |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 |year= 1999 |pmid= 9892679 |doi=
*cite journal | author=Dunham I, Shimizu N, Roe BA, "et al." |title=The DNA sequence of human chromosome 22. |journal=Nature |volume=402 |issue= 6761 |pages= 489–95 |year= 1999 |pmid= 10591208 |doi= 10.1038/990031
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |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
*cite journal | author=Longman C, Brockington M, Torelli S, "et al." |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 |year= 2004 |pmid= 12966029 |doi= 10.1093/hmg/ddg307
*cite journal | author=Kanagawa M, Saito F, Kunz S, "et al." |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
*cite journal | author=Collins JE, Wright CL, Edwards CA, "et al." |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
*cite journal | author=Gerhard DS, Wagner L, Feingold EA, "et al." |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
*cite journal | author=Brockington M, Torelli S, Prandini P, "et al." |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 | author=Fujimura K, Sawaki H, Sakai T, "et al." |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 | author=Grewal PK, McLaughlan JM, Moore CJ, "et al." |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

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