Biology:LARGE
 Generic protein structure example |
Glycosyltransferase-like protein LARGE1 is an enzyme that in humans is encoded by the LARGE gene.[1][2][3][4]
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.[3] 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.[3][4]
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
- ↑ "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 (2): 598–603. Mar 1999. doi:10.1073/pnas.96.2.598. PMID 9892679. Bibcode: 1999PNAS...96..598P.
- ↑ "The DNA sequence of human chromosome 22". Nature 402 (6761): 489–95. Dec 1999. doi:10.1038/990031. PMID 10591208. Bibcode: 1999Natur.402..489D.
- ↑ 3.0 3.1 3.2 "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 (21): 2853–61. Oct 2003. doi:10.1093/hmg/ddg307. PMID 12966029.
- ↑ 4.0 4.1 "Entrez Gene: LARGE like-glycosyltransferase". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=9215.
Further reading
- "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 (1): 31–9. 1998. doi:10.1093/dnares/5.1.31. PMID 9628581.
- "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. 2003. doi:10.1073/pnas.242603899. PMID 12477932. Bibcode: 2002PNAS...9916899M.
- "Molecular recognition by LARGE is essential for expression of functional dystroglycan.". Cell 117 (7): 953–64. 2004. doi:10.1016/j.cell.2004.06.003. PMID 15210115.
- "A genome annotation-driven approach to cloning the human ORFeome.". Genome Biol. 5 (10): R84. 2005. doi:10.1186/gb-2004-5-10-r84. PMID 15461802.
- "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. 2004. doi:10.1101/gr.2596504. PMID 15489334.
- "Localization and functional analysis of the LARGE family of glycosyltransferases: significance for muscular dystrophy.". Hum. Mol. Genet. 14 (5): 657–65. 2005. doi:10.1093/hmg/ddi062. PMID 15661757.
- "LARGE2 facilitates the maturation of alpha-dystroglycan more effectively than LARGE.". Biochem. Biophys. Res. Commun. 329 (3): 1162–71. 2005. doi:10.1016/j.bbrc.2005.02.082. PMID 15752776.
- "Characterization of the LARGE family of putative glycosyltransferases associated with dystroglycanopathies.". Glycobiology 15 (10): 912–23. 2006. doi:10.1093/glycob/cwi094. PMID 15958417.
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