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產品詳情
  • 產品名稱:ProgerinProtein

  • 產品型號:
  • 產品廠商:DIATHEVA
  • 產品文檔:
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簡單介紹:
ProgerinProtein
詳情介紹:
Purity > 90?%
Background Progerin is a 614 amino acids protein involved in Hutchinson-Gilford progeria syndrome. Progerin is most often generated by a point mutation (C1824T) in the LMNA gene that codes for lamin A and C. This mutation activates a cryptic splice site and gives rise to a form of lamin A with a 50-amino acids internal deletion within the carboxyl-terminal domain of the protein. Approximately 80?% of Hutchinson-Gilford progeria syndrome cases carry a single copy of the most common mutation, a silent point mutation, G608G (GGC > GGT), within exon 11 of LMNA gene. Lamin A constitutes a major structural component of the lamina, a scaffold of proteins found inside the nuclear membrane of a cell, progerin does not properly integrate into the lamina, which disrupts the scaffold structure and leads to significant disfigurement of the nucleus, characterized by a lobular shape.
Application Notes Optimal working dilution should be determined by the investigator.
Restrictions For Research Use only
Format Liquid
Buffer 20?mM Tris-HCl?pH 7.5, 0,5M NaCl, 1?mM DTT, 1,5?mM EDTA, 20?% (v/v) glycerol
Storage -20 °C
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