SEC141

SEC141 is a protein-coding gene located on chromosome 14, specifically at position 14q11.2. It is a member of the Sec14 family of proteins, which are involved in the transport of proteins across membranes. SEC141 encodes for a protein that plays a crucial role in the endoplasmic reticulum (ER) to Golgi transport pathway. This protein is essential for the formation and maintenance of the ER-Golgi intermediate compartment (ERGIC), a critical organelle involved in protein sorting and trafficking.

The SEC141 protein is a component of the COPII coat, which is responsible for the formation of COPII vesicles. These vesicles bud from the ER and transport proteins to the Golgi apparatus. The SEC141 protein interacts with other COPII components, such as SEC23 and SEC24, to facilitate the assembly of the COPII coat and the subsequent formation of COPII vesicles.

Mutations in the SEC141 gene have been associated with various genetic disorders, including Charcot-Marie-Tooth disease type 2A (CMT2A) and autosomal recessive spastic paraplegia type 4 (ARSP4). These disorders are characterized by peripheral neuropathy and spasticity, respectively, and are caused by the disruption of protein transport and trafficking in the nervous system.

Research on the SEC141 protein and its role in protein transport continues to be an active area of study, with the aim of developing potential therapeutic targets for related disorders. Understanding the molecular mechanisms underlying SEC141 function and its interactions with other proteins in the COPII pathway is essential for advancing our knowledge of cellular trafficking and its implications for human health.