Emerin

Emerin
Structure of Emerin protein
Identifiers
Symbol	?
HGNC	3347
OMIM	300384
UniProt	P50402
Search for Structures Swiss-model Domains InterPro

Emerin is a protein encoded by the EMD gene located on the X chromosome in humans. It is a member of the nuclear lamina-associated protein family and plays a crucial role in maintaining the structural integrity of the nuclear envelope. Emerin is involved in various cellular processes, including gene expression, nuclear assembly, and cell signaling. Mutations in the EMD gene are associated with Emery-Dreifuss muscular dystrophy, a condition characterized by muscle weakness and cardiac abnormalities.

Structure

Emerin is a type II integral membrane protein that is approximately 254 amino acids in length. It is composed of a short N-terminal domain, a transmembrane domain, and a C-terminal domain that extends into the nucleoplasm. The C-terminal domain is responsible for interactions with other nuclear proteins, such as lamin A/C and barrier-to-autointegration factor (BAF).

Function

Emerin is primarily located at the inner nuclear membrane, where it interacts with the nuclear lamina and chromatin. Its functions include:

• Nuclear envelope stability: Emerin contributes to the mechanical stability of the nuclear envelope by binding to lamin A/C and other nuclear envelope proteins.
• Gene regulation: Emerin is involved in the regulation of gene expression by interacting with chromatin and transcription factors.
• Signal transduction: Emerin participates in various signaling pathways that influence cell proliferation, differentiation, and apoptosis.

Clinical Significance

Mutations in the EMD gene can lead to Emery-Dreifuss muscular dystrophy (EDMD), an X-linked recessive disorder. EDMD is characterized by:

• Muscle weakness: Progressive weakness and wasting of skeletal muscles, particularly in the upper arms and lower legs.
• Joint contractures: Stiffness and limited movement in joints, especially elbows, ankles, and neck.
• Cardiac involvement: Conduction defects and arrhythmias, which can lead to heart block and sudden cardiac death.

Research Directions

Current research on Emerin focuses on understanding its role in nuclear architecture and its involvement in disease mechanisms. Studies are exploring potential therapeutic approaches to address the defects caused by Emerin mutations, including gene therapy and small molecule interventions.

Also see

• Nuclear envelope
• Laminopathies
• Muscular dystrophy
• Gene expression
• Cell signaling