Emerin

Emerin is a protein that in humans is encoded by the EMD gene. It is a member of the nuclear envelope protein family and plays a crucial role in the structural integrity of the nucleus.

Function

Emerin is a type II integral membrane protein of the inner nuclear membrane. It is involved in the binding of lamins and other nuclear proteins, contributing to the maintenance of the nuclear envelope structure. Emerin is also implicated in the regulation of gene expression, chromatin organization, and signal transduction.

Clinical significance

Mutations in the EMD gene are associated with Emery-Dreifuss muscular dystrophy (EDMD), a condition characterized by joint contractures, muscle weakness, and cardiac conduction defects. This condition is inherited in an X-linked recessive manner, primarily affecting males.

Interactions

Emerin interacts with several proteins, including:

• Lamin A/C
• BANF1 (Barrier to autointegration factor 1)
• Nesprin-1

These interactions are essential for the structural organization of the nuclear envelope and the mechanical stability of the nucleus.

See also

• Nuclear envelope
• Laminopathies
• Muscular dystrophy

External links

• EMD gene at NCBI
• Emerin protein at UniProt

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