Definition of Lamin A/C

Lamin A/C: The lamin family of proteins that make up the nuclear lamina, a matrix of protein located next to the inner nuclear membrane. Also known as LMNA. Lamin proteins are involved in nuclear stability, chromatin structure and gene expression. There are two types of mammalian lamin, A and B. Through alternate splicing, this gene encodes three type A lamin isoforms.

Mutations in the lamin A/C gene lead to a number of diseases: Emery-Dreifuss muscular dystrophy type 2, familial partial lipodystrophy, limb girdle muscular dystrophy type 1B, dilated cardiomyopathy, familial partial lipodystrophy, Charcot-Marie-Tooth disorder type 2B1, mandibuloacral dysplasia, childhood progeria syndrome (Hutchinson-Gilford syndrome) and a subset of Werner syndrome. These diseases have therefore been referred to as laminopathies.