EMC2 Human
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Description
Product Specs
Product Science Overview
EMC2, also known by its gene symbol TTC35, contains three tetratricopeptide repeats (TPRs). TPRs are structural motifs involved in protein-protein interactions and are found in a wide variety of proteins with diverse functions . The exact function of TPRs in EMC2 is still under investigation, but they are believed to facilitate the interaction of EMC2 with other proteins within the EMC.
The EMC is responsible for the cotranslational insertion and folding of transmembrane domains (TMDs) of multipass proteins into the ER membrane. This process is energetically demanding and requires precise coordination to ensure proper protein folding and stability . The EMC, including EMC2, helps mitigate the challenges posed by the insertion of TMDs, particularly those with charged residues, by engaging with these proteins cotranslationally and protecting them from premature degradation .
The EMC, with EMC2 as a key subunit, is essential for the proper functioning of various cellular processes. It is particularly enriched in transporters and other multipass transmembrane proteins, which are critical for maintaining cellular homeostasis . The complex’s ability to interact with and stabilize these proteins ensures their correct localization and function within the cell.
Mutations or dysregulation of EMC2 can have significant implications for human health. For instance, diseases such as Osteopathia Striata with Cranial Sclerosis have been associated with mutations in the EMC2 gene . Understanding the role of EMC2 in the EMC and its interactions with other proteins can provide insights into the molecular mechanisms underlying these diseases and potentially lead to the development of targeted therapies.
Research on EMC2 and the EMC is ongoing, with studies focusing on elucidating the detailed mechanisms of its function and interactions. High-throughput genetic interaction analyses have shown that the EMC is widely conserved and abundant in the ER, highlighting its fundamental role in cellular biology . Future research aims to uncover the specific roles of TPRs in EMC2 and how they contribute to the overall function of the EMC.
In summary, ER Membrane Protein Complex Subunit 2 (Human Recombinant) is a vital component of the EMC, playing a crucial role in the biogenesis and stability of multipass transmembrane proteins. Its importance in cellular function and potential implications for human health make it a significant focus of ongoing research.
