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
Description
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.
Additional information
Size | 100 µg |
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Application | Clinical diagnostics| Life Sciences |
Product type | Reagents for research |
Reagent type | Recombinant protein |
Category | Laminopathies |
Technical information
Accession number | GenBank NP_733821 carrying the R527H mutation |
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Size | 100 µg |
Expression system | E.coli |
Tag | His tagged |
Purity | >90% |
Form | Liquid in 20mM phosphate buffer pH 7.0, 0.5M NaCl, 1mM DTT, 1.5mM EDTA, 20%(v/v) glycerol. |
Tested application | SDS-PAGE, WB |
Shipping/storage conditions | Shipped at -20°C. The protein is stable for 12 months if stored at -80°C. Avoid freeze-thaw cycles. |
Usage | For Laboratory Research Use Only |