Gene LMNA
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Also known as
lamin A/C, prelamin-A/C, LMN1, CDCD1, progeria geneOverview
LMNA (Lamin A/C) encodes nuclear lamins A and C, structural proteins that form the nuclear lamina lining the inner nuclear membrane. Lamins provide structural support to the nucleus, regulate gene expression, and participate in DNA replication and repair. LMNA is essential for maintaining nuclear integrity and proper cellular function across many tissue types.Mutations in LMNA cause a diverse group of diseases called laminopathies, including Emery-Dreifuss muscular dystrophy, dilated cardiomyopathy, familial partial lipodystrophy, and Hutchinson-Gilford progeria syndrome (premature aging). Different mutations affecting different domains cause distinct phenotypes, reflecting the protein's multiple functions. LMNA mutations are an important cause of inherited cardiac arrhythmias and cardiomyopathy.
Understanding your LMNA genetic status provides insights into nuclear structure and function. This information is particularly relevant for understanding risk of certain cardiomyopathies, muscular dystrophies, and metabolic conditions, making it important for cardiovascular health assessment.