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Anti-LARGE antibody

Arvostelut

€666.60* Preço aproximado

  • Luokka:

    Liiketoiminta ja teollisuus > Tutkimus- ja laboratoriotuotteet

  • Tuotenro: 665-STJ11100708
  • Koko: 50 µl
  • Toimittaja: Gentaur
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.

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