Progerin Protein
Origin: Human
Host: Escherichia coli (E. coli)
Recombinant
> 90 %
SDS, WB
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- Target
- Progerin
- Protein Type
- Recombinant
- Origin
- Human
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Source
- Escherichia coli (E. coli)
- Application
- SDS-PAGE (SDS), Western Blotting (WB)
- Purity
- > 90 %
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-
- Application Notes
- Optimal working dilution should be determined by the investigator.
- Restrictions
- For Research Use only
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- 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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- Target
- Progerin
- 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.
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