LMNA

(redirected from 70-kDa lamin)
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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.