This gene, which is one of the largest in the human genome, encodes a member of the N-acetylglucosaminyltransferase gene family. 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 cognitive disability and abnormal glycosylation of alpha-dystroglycan. Alternative splicing of this gene results in two transcript variants that encode the same protein. [provided by RefSeq, Jul 2008]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| LARGE1-20-RE | 20 (40 μL) | 200 μL |  |
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| LARGE1-20-OR | 20 (40 μL) | 200 μL |  |
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| LARGE1-20-GO | 20 (40 μL) | 200 μL |  |
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| LARGE1-20-GR | 20 (40 μL) | 200 μL |  |
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| LARGE1-20-AQ | 20 (40 μL) | 200 μL |  |
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This gene, which is one of the largest in the human genome, encodes a member of the N-acetylglucosaminyltransferase gene family. 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 cognitive disability and abnormal glycosylation of alpha-dystroglycan. Alternative splicing of this gene results in two transcript variants that encode the same protein. [provided by RefSeq, Jul 2008]
Gene Symbol : LARGE1
Gene Name : LARGE xylosyl- and glucuronyltransferase 1
Chromosome : CHR 22: 339,228,40-331,622,36
Locus : 22q12.3
Alt. Genes : AKAP9
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