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.
M utations 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.
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