EME2

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Description of EME2

Introduction EME2 (ER membrane protein complex subunit 2) is an essential protein component of the ERAD (endoplasmic reticulum-associated degradation) machinery in eukaryotic cells. It plays a crucial role in maintaining cellular homeostasis by identifying and retrotranslocating misfolded proteins from the endoplasmic reticulum (ER) to the cytosol for degradation.

Structure and Function EME2 is a multi-pass transmembrane protein that resides in the ER membrane. It forms a complex with other ERAD components, including Hrd1, Derlin-1, and Sel1L, to facilitate the retrotranslocation of misfolded proteins. The EME2 complex recognizes misfolded proteins and initiates their ubiquitination, which is a process that tags them for degradation. Once ubiquitinated, the misfolded proteins are extracted from the ER membrane and retrotranslocated to the cytosol by the Cdc48 complex. In the cytosol, the proteins are degraded by the proteasome, a cellular machinery responsible for protein degradation.

Associated Diseases Mutations in the EME2 gene have been linked to several human diseases, including:

1. Emery-Dreifuss Muscular Dystrophy (EDMD): EDMD is characterized by progressive muscle weakness and wasting, cardiac arrhythmias, and contractures. Mutations in EME2 are the most common cause of autosomal dominant EDMD.

2. Limb-Girdle Muscular Dystrophy Type 2H (LGMD2H): LGMD2H is a type of muscular dystrophy that affects the muscles of the limbs and shoulders. It is caused by mutations in several genes, including EME2.

3. Congenital Muscular Dystrophy (CMD): CMD refers to a group of muscular disorders that manifest in infancy or early childhood. Mutations in EME2 have been associated with certain forms of CMD.

Did you Know ? Approximately 1 in 50,000 individuals worldwide is affected by Emery-Dreifuss Muscular Dystrophy (EDMD), the most common disease associated with EME2 mutations.

References

1. Emery-Dreifuss Muscular Dystrophy
2. Limb-Girdle Muscular Dystrophy Type 2H
3. Endoplasmic Reticulum-Associated Protein Degradation

Additional Information on Latest Research Recent research has shed light on the role of EME2 in other cellular processes beyond ERAD. For example, studies have shown that EME2 is involved in:

1. Lipid Metabolism: EME2 has been found to regulate the metabolism of lipids, particularly cholesterol, in the ER.

2. ER Stress Response: EME2 is involved in the unfolded protein response (UPR), a cellular pathway that responds to ER stress caused by misfolded protein accumulation.

3. Immune Response: EME2 has been implicated in the regulation of the immune system, particularly in the activation of T cells.