LARGE

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Like-glycosyltransferase
Identifiers
Symbols LARGE ; MDC1D; MDDGA6; MDDGB6
External IDs OMIM603590 MGI1342270 HomoloGene7810 GeneCards: LARGE Gene
EC number 2.4.-.-
RNA expression pattern
PBB GE LARGE 204414 at tn.png
PBB GE LARGE 215543 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 9215 16795
Ensembl ENSG00000133424 ENSMUSG00000004383
UniProt O95461 Q9Z1M7
RefSeq (mRNA) NM_004737 NM_010687
RefSeq (protein) NP_004728 NP_034817
Location (UCSC) Chr 22:
33.67 – 34.32 Mb
Chr 8:
72.81 – 73.35 Mb
PubMed search [1] [2]

Glycosyltransferase-like protein LARGE1 is an enzyme that in humans is encoded by the LARGE gene.[1][2][3][4]

Function[edit]

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[edit]

  1. ^ Peyrard M, Seroussi E, Sandberg-Nordqvist AC, Xie YG, Han FY, Fransson I, Collins J, Dunham I, Kost-Alimova M, Imreh S, Dumanski JP (Mar 1999). "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. doi:10.1073/pnas.96.2.598. PMC 15182. PMID 9892679. 
  2. ^ 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, et al. (Dec 1999). "The DNA sequence of human chromosome 22". Nature 402 (6761): 489–95. doi:10.1038/990031. PMID 10591208. 
  3. ^ a b c 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 (Oct 2003). "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. doi:10.1093/hmg/ddg307. PMID 12966029. 
  4. ^ a b "Entrez Gene: LARGE like-glycosyltransferase". 

Further reading[edit]

External links[edit]