LMNA

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LMNA

A gene on chromosome 1q22 that encodes lamin A/C, a protein highly conserved in evolution that forms part of the two-dimensional matrix of proteins located next to the inner nuclear membrane. Lamins are involved in providing nuclear stability and chromatin structure, and in gene expression.

Molecular pathology
LMNA mutations cause the so-called laminopathies—e.g., Charcot-Marie-Tooth disease type 2B1, progeria (Hutchinson-Gilford syndrome), dilated cardiomyopathy, Emery-Dreifuss muscular dystrophy type 2, familial partial lipodystrophy, limb-girdle muscular dystrophy type 1B, mandibuloacral dysplasia, and some cases of Werner syndrome.
References in periodicals archive ?
EDA Treatment Promotes Expression of Both Sirt1 and LmnC and Decreases SA-[beta]-Gal.
In case of LmnA/C, as it can be observed in Figure 8(b), both the PRE-treatment and POST-treatment of 0.3 mg/mL EDA induced an increase in LmnC levels, but not LmnA, which remained stable in every treatment comparing with SIPSF cells (C + [H.sub.2][O.sub.2]).
In natural senescence, LmnA seems to remain constant over time whereas LmnC decreases significantly [17,18], although this could be cell-type dependent, since other studies report a concomitant decrease of both isoforms [17].
Capital letters indicate statistical comparative analysis among LmnA data and lowercase letters among LmnC. Act-C is used as loading control.