Recombinant human Prelamin A carrying the R527H mutation is a 645 amino acids protein with a molecular weight of 70 kDa and is produced in E.coli.
Recombinant Prelamin A R527H
Prelamin A is the precursor of mature lamin A, a structural protein of the nuclear lamina and it is encoded by LMNA gene. Prelamin A carrying the R527H mutation is found in subjects affected by Mandibuloacral Dysplasia type A [MADA; OMIM no. 248370]. MADA is a rare and complex disease characterized by postnatal growth retardation, craniofacial anomalies, skeletal malformations, mottled cutaneous pigmentation, partial lipodystrophy (type A pattern), and insulin resistance.
|Clinical diagnostics| Life Sciences
|Reagents for research
|GenBank NP_733821 carrying the R527H mutation
|Liquid in 20mM phosphate buffer pH 7.0, 0.5M NaCl, 1mM DTT, 1.5mM EDTA, 20%(v/v) glycerol.
|Shipped at -20°C. The protein is stable for 12 months if stored at -80°C. Avoid freeze-thaw cycles.
|For Laboratory Research Use Only