LMNA

LMNA is a gene that encodes the lamin A/C proteins, which are components of the nuclear lamina, a structure that provides support to the nuclear envelope. The LMNA gene is located on chromosome 1 at position 1q22.

Function

The lamin A/C proteins are involved in maintaining the structural integrity of the nucleus and play a role in DNA replication, chromatin organization, and gene expression. They are also important for the mechanical stability of the nuclear envelope and are involved in cell signaling pathways.

Clinical significance

Mutations in the LMNA gene are associated with a variety of genetic disorders, collectively known as laminopathies. These include:

• Hutchinson-Gilford progeria syndrome (HGPS)
• Emery-Dreifuss muscular dystrophy
• Dilated cardiomyopathy
• Familial partial lipodystrophy
• Charcot-Marie-Tooth disease

These conditions are characterized by defects in muscle, adipose tissue, and nerve function, as well as premature aging in the case of HGPS.

Research

Research on LMNA and its associated proteins is ongoing, with studies focusing on understanding the molecular mechanisms underlying laminopathies and developing potential therapeutic interventions.

See also

• Nuclear lamina
• Laminopathies
• Gene expression

External links

• LMNA gene at NCBI
• LMNA gene at Genetics Home Reference