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Description
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 mental retardation and abnormal glycosylation of alpha-dystroglycan. Alternative splicing of this gene results in two transcript variants that encode the same protein. [provided by RefSeq
Specifications
Specifications
| Antigen | LARGE |
| Applications | ELISA |
| Classification | Polyclonal |
| Concentration | 0.5 mg/mL |
| Conjugate | Unconjugated |
| Description | Goat polyclonal antibody raised against synthetic peptide of LARGE. |
| Dilution | ELISA (1:32000) The optimal working dilution should be determined by the end user. |
| Formulation | In 0.5mg/mL Tris saline, pH 7.3 (0.02% sodium azide, 0.5% BSA) |
| Gene | LARGE |
| Gene Alias | KIAA0609/MDC1D |
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