TMED5

Ideogram human chromosome 1

TMED5

TMED5, also known as Transmembrane P24 Trafficking Protein 5, is a protein-coding gene. It is involved in intracellular protein trafficking and plays a crucial role in maintaining cellular homeostasis. TMED5 is a member of the transmembrane emp24 domain (TMED) protein family, which is responsible for the transport of proteins between the endoplasmic reticulum (ER) and Golgi apparatus.

Function

TMED5 functions as a cargo receptor, facilitating the packaging and transport of secretory proteins from the ER to the Golgi apparatus. It interacts with coat protein complex II (COPII) components to mediate the formation of transport vesicles. Additionally, TMED5 is involved in the quality control of newly synthesized proteins, ensuring proper folding and maturation before transport.

Clinical Significance

Mutations in the TMED5 gene have been associated with various human diseases, including neurodevelopmental disorders and metabolic syndromes. Dysregulation of TMED5 expression can disrupt protein trafficking pathways, leading to cellular dysfunction and disease pathogenesis.

Interactions

TMED5 interacts with other members of the TMED protein family, as well as with components of the COPII vesicle coat. These interactions are essential for the efficient transport of cargo proteins through the secretory pathway.