Progerin Protéine

N° du produit ABIN2669340

Protéine Recombinant exprimée dans Escherichia coli (E. coli).

Aperçu rapide pour Progerin Protéine (ABIN2669340)

Antigène: Progerin

Type de proteíne: Recombinant

Origine: Humain

Source: Escherichia coli (E. coli)

Application: SDS-PAGE (SDS), Western Blotting (WB)

Pureté: > 90 %

Détail du produit

Information d'application

Indications d'application: Optimal working dilution should be determined by the investigator.

Restrictions: For Research Use only

Stockage

Format: Liquid

Buffer: 20 mM Tris-HCl pH 7.5, 0,5M NaCl, 1 mM DTT, 1,5 mM EDTA, 20 % (v/v) glycerol

Stock: -20 °C

Détail du antigène

Antigène: Progerin

Sujet: 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.